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
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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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001249HP:0001249Intellectual disability0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57
HP:0001249HP:0001249Intellectual disability0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040282 - Frequent15
HP:0001249HP:0001249Intellectual disability0AASS CL E G H1015717366OMIM:238700Hyperlysinemia, type I.15
HP:0001249HP:0001249Intellectual disability0AASS CL E G H1015717366ORPHA:3124Saccharopinuria15
HP:0001249HP:0001249Intellectual disability0ABCA2 CL E G H2032OMIM:618808INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0001249HP:0001249Intellectual disability0ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent826
HP:0001249HP:0001249Intellectual disability0ABCA7 CL E G H1034737ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional3
HP:0001249HP:0001249Intellectual disability0ABCC8 CL E G H683359OMIM:256450Hyperinsulinemic hypoglycemia, familial, 1.245
HP:0001249HP:0001249Intellectual disability0ABCC8 CL E G H683359OMIM:240800Hypoglycemia of infancy, leucine-sensitive.245
HP:0001249HP:0001249Intellectual disability0ABCC8 CL E G H683359ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent245
HP:0001249HP:0001249Intellectual disability0ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia254
HP:0001249HP:0001249Intellectual disability0ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu type254
HP:0001249HP:0001249Intellectual disability0ABCD1 CL E G H21561ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional135
HP:0001249HP:0001249Intellectual disability0ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0001249HP:0001249Intellectual disability0ABHD5 CL E G H5109921396OMIM:275630Chanarin-Dorfman syndrome.90
HP:0001249HP:0001249Intellectual disability0ACAT1 CL E G H3893OMIM:203750Alpha-Methylacetoacetic aciduria.91
HP:0001249HP:0001249Intellectual disability0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiency91
HP:0001249HP:0001249Intellectual disability0ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent11
HP:0001249HP:0001249Intellectual disability0ACER3 CL E G H5533116066OMIM:617762Leukodystrophy, progressive, early childhood-onset.
HP:0001249HP:0001249Intellectual disability0ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0001249HP:0001249Intellectual disability0ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiency120
HP:0001249HP:0001249Intellectual disability0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency120
HP:0001249HP:0001249Intellectual disability0ACOX2 CL E G H8309120OMIM:617308Bile acid synthesis defect, congenital, 62
HP:0001249HP:0001249Intellectual disability0ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040283 - Occasional16
HP:0001249HP:0001249Intellectual disability0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0001249HP:0001249Intellectual disability0ACSL4 CL E G H21823571ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome19
HP:0001249HP:0001249Intellectual disability0ACSL4 CL E G H21823571OMIM:300387MENTAL RETARDATION, X-LINKED 63; MRX6319
HP:0001249HP:0001249Intellectual disability0ACTA2 CL E G H59130ORPHA:2573Moyamoya diseaseHP:0040282 - Frequent94
HP:0001249HP:0001249Intellectual disability0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent72
HP:0001249HP:0001249Intellectual disability0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 172
HP:0001249HP:0001249Intellectual disability0ACTB CL E G H60132ORPHA:79107Developmental malformations-deafness-dystonia syndromeHP:0040281 - Very frequent72
HP:0001249HP:0001249Intellectual disability0ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset72
HP:0001249HP:0001249Intellectual disability0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent123
HP:0001249HP:0001249Intellectual disability0ACTG1 CL E G H71144OMIM:614583Baraitser-Winter syndrome 2123
HP:0001249HP:0001249Intellectual disability0ACTL6B CL E G H51412160OMIM:618468DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE762
HP:0001249HP:0001249Intellectual disability0ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects2
HP:0001249HP:0001249Intellectual disability0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent2
HP:0001249HP:0001249Intellectual disability0ACVR1 CL E G H90171ORPHA:337Fibrodysplasia ossificans progressivaHP:0040283 - Occasional49
HP:0001249HP:0001249Intellectual disability0ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva49
HP:0001249HP:0001249Intellectual disability0ADAM22 CL E G H53616201OMIM:617933Epileptic encephalopathy, early infantile, 61
HP:0001249HP:0001249Intellectual disability0ADAMTS10 CL E G H8179413201ORPHA:3449Weill-Marchesani syndrome63
HP:0001249HP:0001249Intellectual disability0ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 163
HP:0001249HP:0001249Intellectual disability0ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent1
HP:0001249HP:0001249Intellectual disability0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0001249HP:0001249Intellectual disability0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosis116
HP:0001249HP:0001249Intellectual disability0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0001249HP:0001249Intellectual disability0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040281 - Very frequent9
HP:0001249HP:0001249Intellectual disability0ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 36.9
HP:0001249HP:0001249Intellectual disability0ADCY3 CL E G H109234OMIM:617885Body mass index quantitative trait locus 19HP:0040284 - Very rare
HP:0001249HP:0001249Intellectual disability0ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0001249HP:0001249Intellectual disability0ADGRG1 CL E G H92894512ORPHA:101070Bilateral frontoparietal polymicrogyriaHP:0040281 - Very frequent88
HP:0001249HP:0001249Intellectual disability0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040282 - Frequent88
HP:0001249HP:0001249Intellectual disability0ADGRG1 CL E G H92894512OMIM:606854Polymicrogyria, bilateral frontoparietal88
HP:0001249HP:0001249Intellectual disability0ADGRG1 CL E G H92894512OMIM:615752POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR88
HP:0001249HP:0001249Intellectual disability0ADGRL1 CL E G H2285920973OMIM:620065
HP:0001249HP:0001249Intellectual disability0ADH5 CL E G H128253OMIM:619151AMED SYNDROME, DIGENIC; AMEDS
HP:0001249HP:0001249Intellectual disability0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome.47
HP:0001249HP:0001249Intellectual disability0ADRA2B CL E G H151282ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040283 - Occasional3
HP:0001249HP:0001249Intellectual disability0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0001249HP:0001249Intellectual disability0ADSL CL E G H158291ORPHA:46Adenylosuccinate lyase deficiencyHP:0040281 - Very frequent118
HP:0001249HP:0001249Intellectual disability0AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disabilityHP:0040282 - Frequent59
HP:0001249HP:0001249Intellectual disability0AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe59
HP:0001249HP:0001249Intellectual disability0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0001249HP:0001249Intellectual disability0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome.6
HP:0001249HP:0001249Intellectual disability0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040281 - Very frequent6
HP:0001249HP:0001249Intellectual disability0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome86
HP:0001249HP:0001249Intellectual disability0AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA.76
HP:0001249HP:0001249Intellectual disability0AGA CL E G H175318ORPHA:93AspartylglucosaminuriaHP:0040281 - Very frequent76
HP:0001249HP:0001249Intellectual disability0AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0001249HP:0001249Intellectual disability0AGGF1 CL E G H5510924684ORPHA:90308Klippel-Trénaunay syndromeHP:0040283 - Occasional1
HP:0001249HP:0001249Intellectual disability0AGL CL E G H178321ORPHA:366Glycogen storage disease due to glycogen debranching enzyme deficiency216
HP:0001249HP:0001249Intellectual disability0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0001249HP:0001249Intellectual disability0AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophyHP:0040282 - Frequent85
HP:0001249HP:0001249Intellectual disability0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0001249HP:0001249Intellectual disability0AHCY CL E G H191343OMIM:613752HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY.31
HP:0001249HP:0001249Intellectual disability0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040281 - Very frequent36
HP:0001249HP:0001249Intellectual disability0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome.36
HP:0001249HP:0001249Intellectual disability0AHI1 CL E G H5480621575ORPHA:475Joubert syndromeHP:0040281 - Very frequent175
HP:0001249HP:0001249Intellectual disability0AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3.175
HP:0001249HP:0001249Intellectual disability0AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent175
HP:0001249HP:0001249Intellectual disability0AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent175
HP:0001249HP:0001249Intellectual disability0AHR CL E G H196348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0001249HP:0001249Intellectual disability0AHSG CL E G H197349ORPHA:2850Alopecia-intellectual disability syndromeHP:0040281 - Very frequent5
HP:0001249HP:0001249Intellectual disability0AHSG CL E G H197349OMIM:203650Alopecia-Mental retardation syndrome 15
HP:0001249HP:0001249Intellectual disability0AIFM1 CL E G H91318768OMIM:310490Cowchock syndrome.60
HP:0001249HP:0001249Intellectual disability0AIFM1 CL E G H91318768ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndromeHP:0040282 - Frequent60
HP:0001249HP:0001249Intellectual disability0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration60
HP:0001249HP:0001249Intellectual disability0AIFM1 CL E G H91318768ORPHA:101078X-linked Charcot-Marie-Tooth disease type 4HP:0040282 - Frequent60
HP:0001249HP:0001249Intellectual disability0AIMP2 CL E G H796520609OMIM:618006Leukodystrophy, hypomyelinating, 171
HP:0001249HP:0001249Intellectual disability0AIPL1 CL E G H23746359ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional114
HP:0001249HP:0001249Intellectual disability0AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040282 - Frequent54
HP:0001249HP:0001249Intellectual disability0AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0001249HP:0001249Intellectual disability0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0001249HP:0001249Intellectual disability0AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic54
HP:0001249HP:0001249Intellectual disability0AKT3 CL E G H10000393ORPHA:99802Hemimegalencephaly19
HP:0001249HP:0001249Intellectual disability0AKT3 CL E G H10000393OMIM:615937Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2.19
HP:0001249HP:0001249Intellectual disability0ALAD CL E G H210395ORPHA:100924Porphyria due to ALA dehydratase deficiency62
HP:0001249HP:0001249Intellectual disability0ALDH18A1 CL E G H58329722ORPHA:35664ALDH18A1-related De Barsy syndromeHP:0040281 - Very frequent89
HP:0001249HP:0001249Intellectual disability0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA.89
HP:0001249HP:0001249Intellectual disability0ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessive.89
HP:0001249HP:0001249Intellectual disability0ALDH3A2 CL E G H224403ORPHA:816Sjögren-Larsson syndromeHP:0040281 - Very frequent87
HP:0001249HP:0001249Intellectual disability0ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome.87
HP:0001249HP:0001249Intellectual disability0ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 2HP:0040281 - Very frequent74
HP:0001249HP:0001249Intellectual disability0ALDH4A1 CL E G H8659406OMIM:239510Hyperprolinemia, type II.74
HP:0001249HP:0001249Intellectual disability0ALDH5A1 CL E G H7915408ORPHA:22Succinic semialdehyde dehydrogenase deficiencyHP:0040281 - Very frequent108
HP:0001249HP:0001249Intellectual disability0ALDH5A1 CL E G H7915408OMIM:271980Succinic semialdehyde dehydrogenase deficiency108
HP:0001249HP:0001249Intellectual disability0ALDH7A1 CL E G H501877OMIM:266100Epilepsy, pyridoxine-dependent.227
HP:0001249HP:0001249Intellectual disability0ALDH7A1 CL E G H501877ORPHA:3006Pyridoxine-dependent epilepsyHP:0040283 - Occasional227
HP:0001249HP:0001249Intellectual disability0ALDOA CL E G H226414ORPHA:57Glycogen storage disease due to aldolase A deficiencyHP:0040283 - Occasional50
HP:0001249HP:0001249Intellectual disability0ALDOA CL E G H226414OMIM:611881Glycogen storage disease XIIHP:0040283 - Occasional50
HP:0001249HP:0001249Intellectual disability0ALDOB CL E G H229417OMIM:229600Fructose intolerance, hereditary.73
HP:0001249HP:0001249Intellectual disability0ALG1 CL E G H5605218294ORPHA:79327ALG1-CDGHP:0040281 - Very frequent58
HP:0001249HP:0001249Intellectual disability0ALG11 CL E G H44013832456ORPHA:280071ALG11-CDGHP:0040281 - Very frequent41
HP:0001249HP:0001249Intellectual disability0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040282 - Frequent68
HP:0001249HP:0001249Intellectual disability0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 3696
HP:0001249HP:0001249Intellectual disability0ALG14 CL E G H19985728287OMIM:619031INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF12
HP:0001249HP:0001249Intellectual disability0ALG2 CL E G H8536523159ORPHA:79326ALG2-CDGHP:0040282 - Frequent46
HP:0001249HP:0001249Intellectual disability0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii.46
HP:0001249HP:0001249Intellectual disability0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040281 - Very frequent93
HP:0001249HP:0001249Intellectual disability0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il.93
HP:0001249HP:0001249Intellectual disability0ALKBH8 CL E G H9180125189OMIM:618504Intellectual developmental disorder, autosomal recessive 71
HP:0001249HP:0001249Intellectual disability0ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 2.75
HP:0001249HP:0001249Intellectual disability0ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 2.63
HP:0001249HP:0001249Intellectual disability0ALX1 CL E G H80921494OMIM:613456Frontonasal dysplasia 3.5
HP:0001249HP:0001249Intellectual disability0ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndromeHP:0040283 - Occasional5
HP:0001249HP:0001249Intellectual disability0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 1.9
HP:0001249HP:0001249Intellectual disability0ALX4 CL E G H60529450ORPHA:60015Enlarged parietal foraminaHP:0040284 - Very rare132
HP:0001249HP:0001249Intellectual disability0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2HP:0040283 - Occasional132
HP:0001249HP:0001249Intellectual disability0ALX4 CL E G H60529450ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndrome132
HP:0001249HP:0001249Intellectual disability0ALX4 CL E G H60529450ORPHA:52022Potocki-Shaffer syndromeHP:0040283 - Occasional132
HP:0001249HP:0001249Intellectual disability0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0001249HP:0001249Intellectual disability0AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndromeHP:0040283 - Occasional34
HP:0001249HP:0001249Intellectual disability0AMMECR1 CL E G H9949467ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome2
HP:0001249HP:0001249Intellectual disability0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0001249HP:0001249Intellectual disability0AMT CL E G H275473OMIM:605899Glycine encephalopathy.56
HP:0001249HP:0001249Intellectual disability0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040283 - Occasional2
HP:0001249HP:0001249Intellectual disability0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040281 - Very frequent150
HP:0001249HP:0001249Intellectual disability0ANK3 CL E G H288494ORPHA:356996ANK3-related intellectual disability-sleep disturbance syndrome176
HP:0001249HP:0001249Intellectual disability0ANK3 CL E G H288494OMIM:615493Mental retardation, autosomal recessive 37.176
HP:0001249HP:0001249Intellectual disability0ANKLE2 CL E G H2314129101ORPHA:2512Autosomal recessive primary microcephaly3
HP:0001249HP:0001249Intellectual disability0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndrome102
HP:0001249HP:0001249Intellectual disability0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome.102
HP:0001249HP:0001249Intellectual disability0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxia64
HP:0001249HP:0001249Intellectual disability0ANO10 CL E G H5512925519OMIM:613728Spinocerebellar ataxia, autosomal recessive 10HP:0040283 - Occasional64
HP:0001249HP:0001249Intellectual disability0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndromeHP:0040284 - Very rare8
HP:0001249HP:0001249Intellectual disability0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness.
HP:0001249HP:0001249Intellectual disability0AP1B1 CL E G H162554ORPHA:171851MEDNIK syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0001249HP:0001249Intellectual disability0AP1G1 CL E G H164555OMIM:619548USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0001249HP:0001249Intellectual disability0AP1S1 CL E G H1174559ORPHA:171851MEDNIK syndromeHP:0040281 - Very frequent1
HP:0001249HP:0001249Intellectual disability0AP1S1 CL E G H1174559OMIM:609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma.1
HP:0001249HP:0001249Intellectual disability0AP1S2 CL E G H8905560ORPHA:85335Fried syndrome13
HP:0001249HP:0001249Intellectual disability0AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome.13
HP:0001249HP:0001249Intellectual disability0AP1S2 CL E G H8905560ORPHA:85329X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome13
HP:0001249HP:0001249Intellectual disability0AP2M1 CL E G H1173564OMIM:618587INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0001249HP:0001249Intellectual disability0AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0001249HP:0001249Intellectual disability0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent7
HP:0001249HP:0001249Intellectual disability0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegia49
HP:0001249HP:0001249Intellectual disability0AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessive49
HP:0001249HP:0001249Intellectual disability0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegia48
HP:0001249HP:0001249Intellectual disability0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive48
HP:0001249HP:0001249Intellectual disability0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegia41
HP:0001249HP:0001249Intellectual disability0AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive41
HP:0001249HP:0001249Intellectual disability0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegia18
HP:0001249HP:0001249Intellectual disability0AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive18
HP:0001249HP:0001249Intellectual disability0AP5Z1 CL E G H990722197ORPHA:306511Autosomal recessive spastic paraplegia type 48HP:0040282 - Frequent165
HP:0001249HP:0001249Intellectual disability0AP5Z1 CL E G H990722197OMIM:613647Spastic paraplegia 48, autosomal recessive.165
HP:0001249HP:0001249Intellectual disability0APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletion3179
HP:0001249HP:0001249Intellectual disability0APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0001249HP:0001249Intellectual disability0APC2 CL E G H1029724036OMIM:618677CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM101
HP:0001249HP:0001249Intellectual disability0APC2 CL E G H1029724036ORPHA:821Sotos syndrome1
HP:0001249HP:0001249Intellectual disability0APC2 CL E G H1029724036OMIM:617169Sotos syndrome 3.1
HP:0001249HP:0001249Intellectual disability0APP CL E G H351620ORPHA:324703ABetaL34V amyloidosisHP:0040281 - Very frequent74
HP:0001249HP:0001249Intellectual disability0APP CL E G H351620ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional74
HP:0001249HP:0001249Intellectual disability0AQP2 CL E G H359634OMIM:125800Diabetes insipidus, nephrogenic, 2.75
HP:0001249HP:0001249Intellectual disability0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay.3
HP:0001249HP:0001249Intellectual disability0ARFGEF2 CL E G H1056415853OMIM:608097Periventricular heterotopia with microcephaly, autosomal recessive.179
HP:0001249HP:0001249Intellectual disability0ARG1 CL E G H383663ORPHA:90Argininemia31
HP:0001249HP:0001249Intellectual disability0ARG1 CL E G H383663OMIM:207800Argininemia31
HP:0001249HP:0001249Intellectual disability0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional147
HP:0001249HP:0001249Intellectual disability0ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1.147
HP:0001249HP:0001249Intellectual disability0ARHGDIA CL E G H396678OMIM:615244Nephrotic syndrome, type 8.3
HP:0001249HP:0001249Intellectual disability0ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent6
HP:0001249HP:0001249Intellectual disability0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations.1
HP:0001249HP:0001249Intellectual disability0ARHGEF9 CL E G H2322914561OMIM:300607Epileptic encephalopathy, early infantile, 845
HP:0001249HP:0001249Intellectual disability0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndrome88
HP:0001249HP:0001249Intellectual disability0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 2.88
HP:0001249HP:0001249Intellectual disability0ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndrome219
HP:0001249HP:0001249Intellectual disability0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndrome219
HP:0001249HP:0001249Intellectual disability0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0001249HP:0001249Intellectual disability0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndrome25
HP:0001249HP:0001249Intellectual disability0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 6.25
HP:0001249HP:0001249Intellectual disability0ARL13B CL E G H20089425419ORPHA:475Joubert syndromeHP:0040281 - Very frequent62
HP:0001249HP:0001249Intellectual disability0ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0001249HP:0001249Intellectual disability0ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0001249HP:0001249Intellectual disability0ARL3 CL E G H403694ORPHA:475Joubert syndromeHP:0040281 - Very frequent1
HP:0001249HP:0001249Intellectual disability0ARL3 CL E G H403694ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0001249HP:0001249Intellectual disability0ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent29
HP:0001249HP:0001249Intellectual disability0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0001249HP:0001249Intellectual disability0ARL6 CL E G H8410013210OMIM:600151Bardet-Biedl syndrome 329
HP:0001249HP:0001249Intellectual disability0ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent29
HP:0001249HP:0001249Intellectual disability0ARMC9 CL E G H8021020730ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0ARMC9 CL E G H8021020730OMIM:617622JOUBERT SYNDROME 30; JBTS30
HP:0001249HP:0001249Intellectual disability0ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional
HP:0001249HP:0001249Intellectual disability0ARPC4 CL E G H10093707OMIM:620141
HP:0001249HP:0001249Intellectual disability0ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy.253
HP:0001249HP:0001249Intellectual disability0ARSI CL E G H34007532521ORPHA:401815Autosomal recessive spastic paraplegia type 66HP:0040282 - Frequent1
HP:0001249HP:0001249Intellectual disability0ARV1 CL E G H6480129561OMIM:617020Epileptic encephalopathy, early infantile, 383
HP:0001249HP:0001249Intellectual disability0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0001249HP:0001249Intellectual disability0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0001249HP:0001249Intellectual disability0ARX CL E G H17030218060ORPHA:2508Corpus callosum agenesis-abnormal genitalia syndrome166
HP:0001249HP:0001249Intellectual disability0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia166
HP:0001249HP:0001249Intellectual disability0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0001249HP:0001249Intellectual disability0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent166
HP:0001249HP:0001249Intellectual disability0ARX CL E G H17030218060OMIM:300419Mental retardation, X-linked, with or without seizures, arx-related166
HP:0001249HP:0001249Intellectual disability0ARX CL E G H17030218060OMIM:309510Partington syndrome166
HP:0001249HP:0001249Intellectual disability0ARX CL E G H17030218060ORPHA:94083Partington syndromeHP:0040281 - Very frequent166
HP:0001249HP:0001249Intellectual disability0ARX CL E G H17030218060ORPHA:452X-linked lissencephaly with abnormal genitaliaHP:0040281 - Very frequent166
HP:0001249HP:0001249Intellectual disability0ARX CL E G H17030218060ORPHA:3175X-linked spasticity-intellectual disability-epilepsy syndromeHP:0040281 - Very frequent166
HP:0001249HP:0001249Intellectual disability0ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040282 - Frequent78
HP:0001249HP:0001249Intellectual disability0ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis.78
HP:0001249HP:0001249Intellectual disability0ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040284 - Very rare78
HP:0001249HP:0001249Intellectual disability0ASCL1 CL E G H429738ORPHA:99803Haddad syndromeHP:0040282 - Frequent15
HP:0001249HP:0001249Intellectual disability0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 52.1
HP:0001249HP:0001249Intellectual disability0ASL CL E G H435746ORPHA:23Argininosuccinic aciduriaHP:0040282 - Frequent81
HP:0001249HP:0001249Intellectual disability0ASL CL E G H435746OMIM:207900Argininosuccinic aciduria.81
HP:0001249HP:0001249Intellectual disability0ASPM CL E G H25926619048ORPHA:2512Autosomal recessive primary microcephaly512
HP:0001249HP:0001249Intellectual disability0ASPM CL E G H25926619048OMIM:608716Microcephaly 5, primary, autosomal recessive.512
HP:0001249HP:0001249Intellectual disability0ASS1 CL E G H445758OMIM:215700Citrullinemia, classic.119
HP:0001249HP:0001249Intellectual disability0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndrome145
HP:0001249HP:0001249Intellectual disability0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome145
HP:0001249HP:0001249Intellectual disability0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome.7
HP:0001249HP:0001249Intellectual disability0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040281 - Very frequent49
HP:0001249HP:0001249Intellectual disability0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0001249HP:0001249Intellectual disability0ATAD1 CL E G H8489625903ORPHA:3197Hereditary hyperekplexiaHP:0040283 - Occasional
HP:0001249HP:0001249Intellectual disability0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome.5
HP:0001249HP:0001249Intellectual disability0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndromeHP:0040281 - Very frequent5
HP:0001249HP:0001249Intellectual disability0ATIC CL E G H471794ORPHA:250977AICA-ribosiduria4
HP:0001249HP:0001249Intellectual disability0ATIC CL E G H471794OMIM:608688Aicar transformylase/imp cyclohydrolase deficiency4
HP:0001249HP:0001249Intellectual disability0ATL1 CL E G H5106211231OMIM:182600Spastic paraplegia 3, autosomal dominant71
HP:0001249HP:0001249Intellectual disability0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0001249HP:0001249Intellectual disability0ATN1 CL E G H18223033OMIM:125370Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia16
HP:0001249HP:0001249Intellectual disability0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0001249HP:0001249Intellectual disability0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent239
HP:0001249HP:0001249Intellectual disability0ATP1A2 CL E G H477800OMIM:104290Alternating hemiplegia of childhood 1.239
HP:0001249HP:0001249Intellectual disability0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040284 - Very rare239
HP:0001249HP:0001249Intellectual disability0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent239
HP:0001249HP:0001249Intellectual disability0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent150
HP:0001249HP:0001249Intellectual disability0ATP1A3 CL E G H478801OMIM:614820Alternating hemiplegia of childhood 2.150
HP:0001249HP:0001249Intellectual disability0ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0001249HP:0001249Intellectual disability0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent150
HP:0001249HP:0001249Intellectual disability0ATP2A2 CL E G H488812OMIM:124200Darier-White disease86
HP:0001249HP:0001249Intellectual disability0ATP2B1 CL E G H490814OMIM:619910
HP:0001249HP:0001249Intellectual disability0ATP5F1E CL E G H514838OMIM:614053Mitochondrial complex V (atp synthase) deficiency, nuclear type 3.
HP:0001249HP:0001249Intellectual disability0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosis
HP:0001249HP:0001249Intellectual disability0ATP6 CL E G H45087414ORPHA:644NARP syndrome
HP:0001249HP:0001249Intellectual disability0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0001249HP:0001249Intellectual disability0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0001249HP:0001249Intellectual disability0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040281 - Very frequent36
HP:0001249HP:0001249Intellectual disability0ATP6V0A1 CL E G H535865OMIM:6199701
HP:0001249HP:0001249Intellectual disability0ATP6V0A1 CL E G H535865OMIM:6199711
HP:0001249HP:0001249Intellectual disability0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic type140
HP:0001249HP:0001249Intellectual disability0ATP6V0A2 CL E G H2354518481OMIM:219200Cutis laxa, autosomal recessive, type IIA.140
HP:0001249HP:0001249Intellectual disability0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0001249HP:0001249Intellectual disability0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic type3
HP:0001249HP:0001249Intellectual disability0ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 3.3
HP:0001249HP:0001249Intellectual disability0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0001249HP:0001249Intellectual disability0ATP6V1B2 CL E G H526854ORPHA:79499Autosomal dominant deafness-onychodystrophy syndromeHP:0040283 - Occasional5
HP:0001249HP:0001249Intellectual disability0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent5
HP:0001249HP:0001249Intellectual disability0ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 2HP:0040283 - Occasional5
HP:0001249HP:0001249Intellectual disability0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic type2
HP:0001249HP:0001249Intellectual disability0ATP7A CL E G H538869ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional192
HP:0001249HP:0001249Intellectual disability0ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040282 - Frequent192
HP:0001249HP:0001249Intellectual disability0ATP7A CL E G H538869OMIM:309400Menkes disease.192
HP:0001249HP:0001249Intellectual disability0ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040281 - Very frequent192
HP:0001249HP:0001249Intellectual disability0ATP7B CL E G H540870ORPHA:905Wilson diseaseHP:0040281 - Very frequent315
HP:0001249HP:0001249Intellectual disability0ATP8A2 CL E G H5176113533OMIM:615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4.24
HP:0001249HP:0001249Intellectual disability0ATP8A2 CL E G H5176113533ORPHA:1766Dysequilibrium syndromeHP:0040281 - Very frequent24
HP:0001249HP:0001249Intellectual disability0ATR CL E G H545882ORPHA:808Seckel syndromeHP:0040281 - Very frequent168
HP:0001249HP:0001249Intellectual disability0ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0001249HP:0001249Intellectual disability0ATRIP CL E G H8412633499ORPHA:808Seckel syndromeHP:0040281 - Very frequent1
HP:0001249HP:0001249Intellectual disability0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040281 - Very frequent169
HP:0001249HP:0001249Intellectual disability0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0001249HP:0001249Intellectual disability0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0001249HP:0001249Intellectual disability0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040281 - Very frequent61
HP:0001249HP:0001249Intellectual disability0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 26.61
HP:0001249HP:0001249Intellectual disability0AVPR2 CL E G H554897OMIM:304800Diabetes insipidus, nephrogenic, X-linked.67
HP:0001249HP:0001249Intellectual disability0B3GALNT2 CL E G H14878928596OMIM:615181MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1143
HP:0001249HP:0001249Intellectual disability0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent43
HP:0001249HP:0001249Intellectual disability0B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040283 - Occasional38
HP:0001249HP:0001249Intellectual disability0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040281 - Very frequent36
HP:0001249HP:0001249Intellectual disability0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0001249HP:0001249Intellectual disability0B4GALNT1 CL E G H25834117ORPHA:101006Autosomal recessive spastic paraplegia type 26HP:0040282 - Frequent25
HP:0001249HP:0001249Intellectual disability0B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive25
HP:0001249HP:0001249Intellectual disability0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent17
HP:0001249HP:0001249Intellectual disability0B9D1 CL E G H2707724123ORPHA:475Joubert syndromeHP:0040281 - Very frequent28
HP:0001249HP:0001249Intellectual disability0B9D1 CL E G H2707724123OMIM:617120Joubert syndrome 27.28
HP:0001249HP:0001249Intellectual disability0B9D2 CL E G H8077628636ORPHA:475Joubert syndromeHP:0040281 - Very frequent34
HP:0001249HP:0001249Intellectual disability0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0001249HP:0001249Intellectual disability0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent1
HP:0001249HP:0001249Intellectual disability0BBIP1 CL E G H9248228093OMIM:615995Bardet-Biedl syndrome 181
HP:0001249HP:0001249Intellectual disability0BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent114
HP:0001249HP:0001249Intellectual disability0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0001249HP:0001249Intellectual disability0BBS1 CL E G H582966ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent114
HP:0001249HP:0001249Intellectual disability0BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent118
HP:0001249HP:0001249Intellectual disability0BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent71
HP:0001249HP:0001249Intellectual disability0BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent97
HP:0001249HP:0001249Intellectual disability0BBS2 CL E G H583967OMIM:615981Bardet-Biedl syndrome 297
HP:0001249HP:0001249Intellectual disability0BBS2 CL E G H583967ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent97
HP:0001249HP:0001249Intellectual disability0BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent87
HP:0001249HP:0001249Intellectual disability0BBS4 CL E G H585969OMIM:615982Bardet-Biedl syndrome 487
HP:0001249HP:0001249Intellectual disability0BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent25
HP:0001249HP:0001249Intellectual disability0BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent66
HP:0001249HP:0001249Intellectual disability0BBS7 CL E G H5521218758OMIM:615984BARDET-BIEDL SYNDROME 7; BBS766
HP:0001249HP:0001249Intellectual disability0BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent119
HP:0001249HP:0001249Intellectual disability0BBS9 CL E G H2724130000OMIM:615986BARDET-BIEDL SYNDROME 9; BBS9119
HP:0001249HP:0001249Intellectual disability0BCAP31 CL E G H1013416695OMIM:300475Deafness, dystonia, and cerebral hypomyelination.8
HP:0001249HP:0001249Intellectual disability0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0001249HP:0001249Intellectual disability0BCKDHA CL E G H593986OMIM:248600Maple syrup urine disease.120
HP:0001249HP:0001249Intellectual disability0BCKDHB CL E G H594987OMIM:248600Maple syrup urine disease.162
HP:0001249HP:0001249Intellectual disability0BCKDK CL E G H1029516902OMIM:614923Branched-Chain ketoacid dehydrogenase kinase deficiencyHP:0040280 - Obligate28
HP:0001249HP:0001249Intellectual disability0BCL11A CL E G H5333513221OMIM:617101Intellectual developmental disorder with persistence of fetal hemoglobin.11
HP:0001249HP:0001249Intellectual disability0BCL11B CL E G H6491913222OMIM:617237Immunodeficiency 49.3
HP:0001249HP:0001249Intellectual disability0BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES.3
HP:0001249HP:0001249Intellectual disability0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent101
HP:0001249HP:0001249Intellectual disability0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0001249HP:0001249Intellectual disability0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0001249HP:0001249Intellectual disability0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040283 - Occasional101
HP:0001249HP:0001249Intellectual disability0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome17
HP:0001249HP:0001249Intellectual disability0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040281 - Very frequent5
HP:0001249HP:0001249Intellectual disability0BCS1L CL E G H6171020ORPHA:123Björnstad syndromeHP:0040283 - Occasional72
HP:0001249HP:0001249Intellectual disability0BCS1L CL E G H6171020OMIM:262000Bjornstad syndromeHP:0040283 - Occasional72
HP:0001249HP:0001249Intellectual disability0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 1.72
HP:0001249HP:0001249Intellectual disability0BDNF CL E G H6271033ORPHA:893WAGR syndromeHP:0040282 - Frequent5
HP:0001249HP:0001249Intellectual disability0BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent182
HP:0001249HP:0001249Intellectual disability0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0001249HP:0001249Intellectual disability0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0001249HP:0001249Intellectual disability0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathy99
HP:0001249HP:0001249Intellectual disability0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 299
HP:0001249HP:0001249Intellectual disability0BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0001249HP:0001249Intellectual disability0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome.
HP:0001249HP:0001249Intellectual disability0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancyHP:0040282 - Frequent385
HP:0001249HP:0001249Intellectual disability0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndrome2
HP:0001249HP:0001249Intellectual disability0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0001249HP:0001249Intellectual disability0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent276
HP:0001249HP:0001249Intellectual disability0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0001249HP:0001249Intellectual disability0BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040284 - Very rare276
HP:0001249HP:0001249Intellectual disability0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0001249HP:0001249Intellectual disability0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0001249HP:0001249Intellectual disability0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0001249HP:0001249Intellectual disability0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentigines276
HP:0001249HP:0001249Intellectual disability0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0001249HP:0001249Intellectual disability0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040282 - Frequent5769
HP:0001249HP:0001249Intellectual disability0BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S.5769
HP:0001249HP:0001249Intellectual disability0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040282 - Frequent7642
HP:0001249HP:0001249Intellectual disability0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndrome7
HP:0001249HP:0001249Intellectual disability0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome.7
HP:0001249HP:0001249Intellectual disability0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040282 - Frequent1086
HP:0001249HP:0001249Intellectual disability0BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosis.10
HP:0001249HP:0001249Intellectual disability0BRWD3 CL E G H25406517342OMIM:300659MENTAL RETARDATION, X-LINKED 93; MRX93104
HP:0001249HP:0001249Intellectual disability0BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophyHP:0040282 - Frequent105
HP:0001249HP:0001249Intellectual disability0BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2105
HP:0001249HP:0001249Intellectual disability0BSND CL E G H780916512OMIM:602522Bartter syndrome, type 4A, neonatal, with sensorineural deafness.53
HP:0001249HP:0001249Intellectual disability0BTD CL E G H6861122ORPHA:79241Biotinidase deficiencyHP:0040283 - Occasional223
HP:0001249HP:0001249Intellectual disability0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040282 - Frequent5
HP:0001249HP:0001249Intellectual disability0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040282 - Frequent76
HP:0001249HP:0001249Intellectual disability0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 176
HP:0001249HP:0001249Intellectual disability0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0C12ORF4 CL E G H571021184OMIM:618221Mental retardation, autosomal recessive 662
HP:0001249HP:0001249Intellectual disability0C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome13
HP:0001249HP:0001249Intellectual disability0C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndromeHP:0040281 - Very frequent13
HP:0001249HP:0001249Intellectual disability0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0001249HP:0001249Intellectual disability0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV.27
HP:0001249HP:0001249Intellectual disability0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosisHP:0040281 - Very frequent29
HP:0001249HP:0001249Intellectual disability0CA2 CL E G H7601373OMIM:259730Osteopetrosis, autosomal recessive 3.29
HP:0001249HP:0001249Intellectual disability0CA4 CL E G H7621375ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent23
HP:0001249HP:0001249Intellectual disability0CA8 CL E G H7671382OMIM:613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome38
HP:0001249HP:0001249Intellectual disability0CA8 CL E G H7671382ORPHA:1766Dysequilibrium syndromeHP:0040281 - Very frequent8
HP:0001249HP:0001249Intellectual disability0CABP4 CL E G H570101386ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy94
HP:0001249HP:0001249Intellectual disability0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent449
HP:0001249HP:0001249Intellectual disability0CACNA1A CL E G H7731388OMIM:617106Epileptic encephalopathy, early infantile, 42.449
HP:0001249HP:0001249Intellectual disability0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040284 - Very rare449
HP:0001249HP:0001249Intellectual disability0CACNA1A CL E G H7731388ORPHA:97Familial paroxysmal ataxiaHP:0040283 - Occasional449
HP:0001249HP:0001249Intellectual disability0CACNA1A CL E G H7731388ORPHA:2382Lennox-Gastaut syndromeHP:0040281 - Very frequent449
HP:0001249HP:0001249Intellectual disability0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent449
HP:0001249HP:0001249Intellectual disability0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent5
HP:0001249HP:0001249Intellectual disability0CACNA1C CL E G H7751390OMIM:620029572
HP:0001249HP:0001249Intellectual disability0CACNA1C CL E G H7751390OMIM:601005Timothy syndromeHP:0040283 - Occasional572
HP:0001249HP:0001249Intellectual disability0CACNA1D CL E G H7761391OMIM:615474Primary aldosteronism, seizures, and neurologic abnormalities51
HP:0001249HP:0001249Intellectual disability0CACNA1D CL E G H7761391ORPHA:369929Primary hyperaldosteronism-seizures-neurological abnormalities syndrome51
HP:0001249HP:0001249Intellectual disability0CACNA1G CL E G H89131394OMIM:618087Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits.32
HP:0001249HP:0001249Intellectual disability0CACNA1H CL E G H89121395ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional75
HP:0001249HP:0001249Intellectual disability0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent59
HP:0001249HP:0001249Intellectual disability0CACNG2 CL E G H103691406OMIM:614256Mental retardation, autosomal dominant 105
HP:0001249HP:0001249Intellectual disability0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 53.1
HP:0001249HP:0001249Intellectual disability0CAMK2A CL E G H8151460OMIM:618095Mental retardation, autosomal recessive 631
HP:0001249HP:0001249Intellectual disability0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54.
HP:0001249HP:0001249Intellectual disability0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 591
HP:0001249HP:0001249Intellectual disability0CAMKMT CL E G H7982326276ORPHA:1636932p21 microdeletion syndrome1
HP:0001249HP:0001249Intellectual disability0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation.34
HP:0001249HP:0001249Intellectual disability0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability34
HP:0001249HP:0001249Intellectual disability0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0001249HP:0001249Intellectual disability0CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent85
HP:0001249HP:0001249Intellectual disability0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001249HP:0001249Intellectual disability0CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 27HP:0040282 - Frequent35
HP:0001249HP:0001249Intellectual disability0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent118
HP:0001249HP:0001249Intellectual disability0CASK CL E G H85731497OMIM:300422FG SYNDROME 4; FGS4118
HP:0001249HP:0001249Intellectual disability0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0001249HP:0001249Intellectual disability0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm type118
HP:0001249HP:0001249Intellectual disability0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent3
HP:0001249HP:0001249Intellectual disability0CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophyHP:0040282 - Frequent11
HP:0001249HP:0001249Intellectual disability0CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophyHP:0040282 - Frequent48
HP:0001249HP:0001249Intellectual disability0CBS CL E G H8751550ORPHA:394Classic homocystinuriaHP:0040281 - Very frequent242
HP:0001249HP:0001249Intellectual disability0CBS CL E G H8751550OMIM:236200Homocystinuria due to cystathionine beta-synthase deficiency242
HP:0001249HP:0001249Intellectual disability0CBY1 CL E G H257761307ORPHA:475Joubert syndromeHP:0040281 - Very frequent1
HP:0001249HP:0001249Intellectual disability0CC2D1A CL E G H5486230237OMIM:608443Mental retardation, autosomal recessive 357
HP:0001249HP:0001249Intellectual disability0CC2D2A CL E G H5754529253OMIM:619111COACH SYNDROME 2; COACH2247
HP:0001249HP:0001249Intellectual disability0CC2D2A CL E G H5754529253OMIM:612285Joubert syndrome 9247
HP:0001249HP:0001249Intellectual disability0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defect247
HP:0001249HP:0001249Intellectual disability0CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent247
HP:0001249HP:0001249Intellectual disability0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0001249HP:0001249Intellectual disability0CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent147
HP:0001249HP:0001249Intellectual disability0CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040281 - Very frequent33
HP:0001249HP:0001249Intellectual disability0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0001249HP:0001249Intellectual disability0CCDC78 CL E G H12409314153OMIM:614807Myopathy, centronuclear, 425
HP:0001249HP:0001249Intellectual disability0CCDC88A CL E G H5570425523OMIM:617507Peho-Like syndrome1
HP:0001249HP:0001249Intellectual disability0CCDC88C CL E G H44019319967OMIM:236600Hydrocephalus, nonsyndromic, autosomal recessive 1.54
HP:0001249HP:0001249Intellectual disability0CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040281 - Very frequent83
HP:0001249HP:0001249Intellectual disability0CDC40 CL E G H5136217350OMIM:619302PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001249HP:0001249Intellectual disability0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040282 - Frequent6
HP:0001249HP:0001249Intellectual disability0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0001249HP:0001249Intellectual disability0CDC42BPB CL E G H95781738OMIM:619841
HP:0001249HP:0001249Intellectual disability0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional9
HP:0001249HP:0001249Intellectual disability0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional31
HP:0001249HP:0001249Intellectual disability0CDCA7 CL E G H8387914628ORPHA:2268ICF syndromeHP:0040282 - Frequent4
HP:0001249HP:0001249Intellectual disability0CDCA7 CL E G H8387914628OMIM:616910Immunodeficiency-Centromeric instability-facial anomalies syndrome 3HP:0040284 - Very rare4
HP:0001249HP:0001249Intellectual disability0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndrome2
HP:0001249HP:0001249Intellectual disability0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0001249HP:0001249Intellectual disability0CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0001249HP:0001249Intellectual disability0CDH15 CL E G H10131754OMIM:612580MENTAL RETARDATION, AUTOSOMAL DOMINANT 3; MRD353
HP:0001249HP:0001249Intellectual disability0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0001249HP:0001249Intellectual disability0CDH23 CL E G H6407213733ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent636
HP:0001249HP:0001249Intellectual disability0CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent147
HP:0001249HP:0001249Intellectual disability0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0001249HP:0001249Intellectual disability0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder.8
HP:0001249HP:0001249Intellectual disability0CDK19 CL E G H2309719338OMIM:618916DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0001249HP:0001249Intellectual disability0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0CDK5RAP2 CL E G H5575518672ORPHA:2512Autosomal recessive primary microcephaly181
HP:0001249HP:0001249Intellectual disability0CDK5RAP2 CL E G H5575518672OMIM:604804Microcephaly 3, primary, autosomal recessive181
HP:0001249HP:0001249Intellectual disability0CDK6 CL E G H10211777ORPHA:2512Autosomal recessive primary microcephaly6
HP:0001249HP:0001249Intellectual disability0CDK6 CL E G H10211777OMIM:616080Microcephaly 12, primary, autosomal recessive.6
HP:0001249HP:0001249Intellectual disability0CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001249HP:0001249Intellectual disability0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent405
HP:0001249HP:0001249Intellectual disability0CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2405
HP:0001249HP:0001249Intellectual disability0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent405
HP:0001249HP:0001249Intellectual disability0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0001249HP:0001249Intellectual disability0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent200
HP:0001249HP:0001249Intellectual disability0CDON CL E G H5093717104ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent200
HP:0001249HP:0001249Intellectual disability0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0001249HP:0001249Intellectual disability0CDON CL E G H5093717104ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional200
HP:0001249HP:0001249Intellectual disability0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0001249HP:0001249Intellectual disability0CDON CL E G H5093717104ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent200
HP:0001249HP:0001249Intellectual disability0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional50
HP:0001249HP:0001249Intellectual disability0CELF2 CL E G H106592550OMIM:619561DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0001249HP:0001249Intellectual disability0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0CENPE CL E G H10621856ORPHA:808Seckel syndromeHP:0040281 - Very frequent20
HP:0001249HP:0001249Intellectual disability0CENPJ CL E G H5583517272ORPHA:2512Autosomal recessive primary microcephaly161
HP:0001249HP:0001249Intellectual disability0CENPJ CL E G H5583517272OMIM:608393Microcephaly, primary autosomal recessive, 6161
HP:0001249HP:0001249Intellectual disability0CENPJ CL E G H5583517272ORPHA:808Seckel syndromeHP:0040281 - Very frequent161
HP:0001249HP:0001249Intellectual disability0CEP104 CL E G H973124866OMIM:6199885
HP:0001249HP:0001249Intellectual disability0CEP104 CL E G H973124866ORPHA:475Joubert syndromeHP:0040281 - Very frequent5
HP:0001249HP:0001249Intellectual disability0CEP120 CL E G H15324126690ORPHA:475Joubert syndromeHP:0040281 - Very frequent7
HP:0001249HP:0001249Intellectual disability0CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent7
HP:0001249HP:0001249Intellectual disability0CEP135 CL E G H966229086ORPHA:2512Autosomal recessive primary microcephaly38
HP:0001249HP:0001249Intellectual disability0CEP135 CL E G H966229086OMIM:614673Microcephaly 8, primary, autosomal recessive38
HP:0001249HP:0001249Intellectual disability0CEP152 CL E G H2299529298ORPHA:2512Autosomal recessive primary microcephaly146
HP:0001249HP:0001249Intellectual disability0CEP152 CL E G H2299529298ORPHA:808Seckel syndromeHP:0040281 - Very frequent146
HP:0001249HP:0001249Intellectual disability0CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5.146
HP:0001249HP:0001249Intellectual disability0CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent1
HP:0001249HP:0001249Intellectual disability0CEP19 CL E G H8498428209OMIM:615703Morbid obesity and spermatogenic failure1
HP:0001249HP:0001249Intellectual disability0CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent342
HP:0001249HP:0001249Intellectual disability0CEP290 CL E G H8018429021OMIM:615991Bardet-Biedl syndrome 14.342
HP:0001249HP:0001249Intellectual disability0CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5.342
HP:0001249HP:0001249Intellectual disability0CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent342
HP:0001249HP:0001249Intellectual disability0CEP290 CL E G H8018429021ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional342
HP:0001249HP:0001249Intellectual disability0CEP41 CL E G H9568112370ORPHA:475Joubert syndromeHP:0040281 - Very frequent90
HP:0001249HP:0001249Intellectual disability0CEP41 CL E G H9568112370OMIM:614464Joubert syndrome 15.90
HP:0001249HP:0001249Intellectual disability0CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent90
HP:0001249HP:0001249Intellectual disability0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040282 - Frequent17
HP:0001249HP:0001249Intellectual disability0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0001249HP:0001249Intellectual disability0CEP63 CL E G H8025425815ORPHA:2512Autosomal recessive primary microcephaly31
HP:0001249HP:0001249Intellectual disability0CEP63 CL E G H8025425815OMIM:614728Seckel syndrome 6.31
HP:0001249HP:0001249Intellectual disability0CEP83 CL E G H5113417966OMIM:615862Nephronophthisis 18HP:0040283 - Occasional10
HP:0001249HP:0001249Intellectual disability0CEP85L CL E G H38711921638OMIM:618873LISSENCEPHALY 10; LIS101
HP:0001249HP:0001249Intellectual disability0CEP85L CL E G H38711921638ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome1
HP:0001249HP:0001249Intellectual disability0CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent71
HP:0001249HP:0001249Intellectual disability0CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 8.1
HP:0001249HP:0001249Intellectual disability0CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34.
HP:0001249HP:0001249Intellectual disability0CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 40.16
HP:0001249HP:0001249Intellectual disability0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent65
HP:0001249HP:0001249Intellectual disability0CHD1 CL E G H11051915ORPHA:529965Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndromeHP:0040282 - Frequent2
HP:0001249HP:0001249Intellectual disability0CHD1 CL E G H11051915OMIM:617682Pilarowski-Bjornsson syndrome.2
HP:0001249HP:0001249Intellectual disability0CHD2 CL E G H11061917OMIM:615369EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC227
HP:0001249HP:0001249Intellectual disability0CHD2 CL E G H11061917ORPHA:2382Lennox-Gastaut syndromeHP:0040281 - Very frequent227
HP:0001249HP:0001249Intellectual disability0CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent227
HP:0001249HP:0001249Intellectual disability0CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome.14
HP:0001249HP:0001249Intellectual disability0CHD5 CL E G H2603816816OMIM:619873
HP:0001249HP:0001249Intellectual disability0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0001249HP:0001249Intellectual disability0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0001249HP:0001249Intellectual disability0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0001249HP:0001249Intellectual disability0CHKB CL E G H11201938OMIM:602541Muscular dystrophy, congenital, Megaconial type.53
HP:0001249HP:0001249Intellectual disability0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 8.19
HP:0001249HP:0001249Intellectual disability0CHP1 CL E G H1126117433OMIM:618438Spastic ataxia 9, autosomal recessive
HP:0001249HP:0001249Intellectual disability0CHRNA2 CL E G H11351956ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy188
HP:0001249HP:0001249Intellectual disability0CHRNA4 CL E G H11371958ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy225
HP:0001249HP:0001249Intellectual disability0CHRNA4 CL E G H11371958OMIM:600513Epilepsy, nocturnal frontal lobe, type 1225
HP:0001249HP:0001249Intellectual disability0CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndromeHP:0040282 - Frequent52
HP:0001249HP:0001249Intellectual disability0CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0001249HP:0001249Intellectual disability0CHRNB2 CL E G H11411962ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy88
HP:0001249HP:0001249Intellectual disability0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1HP:0040283 - Occasional27
HP:0001249HP:0001249Intellectual disability0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040282 - Frequent16
HP:0001249HP:0001249Intellectual disability0CIB2 CL E G H1051824579ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent15
HP:0001249HP:0001249Intellectual disability0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 45.39
HP:0001249HP:0001249Intellectual disability0CISD2 CL E G H49385624212ORPHA:3463Wolfram syndromeHP:0040283 - Occasional3
HP:0001249HP:0001249Intellectual disability0CIT CL E G H111131985ORPHA:2512Autosomal recessive primary microcephaly15
HP:0001249HP:0001249Intellectual disability0CIT CL E G H111131985OMIM:617090Microcephaly 17, primary, autosomal recessive.15
HP:0001249HP:0001249Intellectual disability0CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome.7
HP:0001249HP:0001249Intellectual disability0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040281 - Very frequent7
HP:0001249HP:0001249Intellectual disability0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0001249HP:0001249Intellectual disability0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndrome45
HP:0001249HP:0001249Intellectual disability0CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome45
HP:0001249HP:0001249Intellectual disability0CLCNKA CL E G H11872026OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.9
HP:0001249HP:0001249Intellectual disability0CLCNKB CL E G H11882027OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.27
HP:0001249HP:0001249Intellectual disability0CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0001249HP:0001249Intellectual disability0CLIC2 CL E G H11932063OMIM:300886MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS324
HP:0001249HP:0001249Intellectual disability0CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome4
HP:0001249HP:0001249Intellectual disability0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0CLN3 CL E G H12012074OMIM:204200Ceroid lipofuscinosis, neuronal, 3.216
HP:0001249HP:0001249Intellectual disability0CLN5 CL E G H12032076OMIM:256731Ceroid lipofuscinosis, neuronal, 5.141
HP:0001249HP:0001249Intellectual disability0CLN8 CL E G H20552079OMIM:610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant.111
HP:0001249HP:0001249Intellectual disability0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040281 - Very frequent111
HP:0001249HP:0001249Intellectual disability0CLP1 CL E G H1097816999ORPHA:411493Pontocerebellar hypoplasia type 10HP:0040282 - Frequent7
HP:0001249HP:0001249Intellectual disability0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040282 - Frequent38
HP:0001249HP:0001249Intellectual disability0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia.38
HP:0001249HP:0001249Intellectual disability0CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent60
HP:0001249HP:0001249Intellectual disability0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 56.1
HP:0001249HP:0001249Intellectual disability0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001249HP:0001249Intellectual disability0CLTRN CL E G H5739329437ORPHA:2116Hartnup diseaseHP:0040283 - Occasional
HP:0001249HP:0001249Intellectual disability0CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent44
HP:0001249HP:0001249Intellectual disability0CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent164
HP:0001249HP:0001249Intellectual disability0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent18
HP:0001249HP:0001249Intellectual disability0CNNM2 CL E G H54805103OMIM:616418Hypomagnesemia, seizures, and mental retardation.47
HP:0001249HP:0001249Intellectual disability0CNOT1 CL E G H230197877OMIM:619033VISSERS-BODMER SYNDROME; VIBOS2
HP:0001249HP:0001249Intellectual disability0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0001249HP:0001249Intellectual disability0CNPY3 CL E G H1069511968OMIM:617929Epileptic encephalopathy, early infantile, 60
HP:0001249HP:0001249Intellectual disability0CNTN2 CL E G H69002172ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040283 - Occasional9
HP:0001249HP:0001249Intellectual disability0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0001249HP:0001249Intellectual disability0CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1.HP:0011463 - Childhood onset518
HP:0001249HP:0001249Intellectual disability0COA8 CL E G H8433420492OMIM:619061MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0001249HP:0001249Intellectual disability0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0COG1 CL E G H93826545ORPHA:263508COG1-CDG52
HP:0001249HP:0001249Intellectual disability0COG2 CL E G H227966546ORPHA:435934COG2-CDG2
HP:0001249HP:0001249Intellectual disability0COG5 CL E G H1046614857ORPHA:263487COG5-CDG79
HP:0001249HP:0001249Intellectual disability0COG5 CL E G H1046614857OMIM:613612CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I79
HP:0001249HP:0001249Intellectual disability0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0001249HP:0001249Intellectual disability0COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndromeHP:0040282 - Frequent71
HP:0001249HP:0001249Intellectual disability0COG6 CL E G H5751118621OMIM:615328Shaheen syndrome.71
HP:0001249HP:0001249Intellectual disability0COG8 CL E G H8434218623ORPHA:95428COG8-CDGHP:0040282 - Frequent39
HP:0001249HP:0001249Intellectual disability0COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0001249HP:0001249Intellectual disability0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0001249HP:0001249Intellectual disability0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0001249HP:0001249Intellectual disability0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndrome243
HP:0001249HP:0001249Intellectual disability0COL2A1 CL E G H12802200ORPHA:85198DysspondyloenchondromatosisHP:0040283 - Occasional284
HP:0001249HP:0001249Intellectual disability0COL2A1 CL E G H12802200ORPHA:90653Stickler syndrome type 1HP:0040283 - Occasional284
HP:0001249HP:0001249Intellectual disability0COL3A1 CL E G H12812201ORPHA:2500AcrogeriaHP:0040282 - Frequent749
HP:0001249HP:0001249Intellectual disability0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies.193
HP:0001249HP:0001249Intellectual disability0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent193
HP:0001249HP:0001249Intellectual disability0COL9A3 CL E G H12992219OMIM:620022137
HP:0001249HP:0001249Intellectual disability0COLEC10 CL E G H105842220ORPHA:2938433MC syndromeHP:0040282 - Frequent3
HP:0001249HP:0001249Intellectual disability0COLEC10 CL E G H105842220OMIM:2483403MC syndrome 3.3
HP:0001249HP:0001249Intellectual disability0COLEC11 CL E G H7898917213ORPHA:2938433MC syndromeHP:0040282 - Frequent9
HP:0001249HP:0001249Intellectual disability0COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 2HP:0040283 - Occasional9
HP:0001249HP:0001249Intellectual disability0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional90
HP:0001249HP:0001249Intellectual disability0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0001249HP:0001249Intellectual disability0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0001249HP:0001249Intellectual disability0COPB2 CL E G H92762232OMIM:619884
HP:0001249HP:0001249Intellectual disability0COPB2 CL E G H92762232ORPHA:2512Autosomal recessive primary microcephaly
HP:0001249HP:0001249Intellectual disability0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 1.54
HP:0001249HP:0001249Intellectual disability0COQ4 CL E G H5111719693OMIM:616276Coenzyme Q10 deficiency, primary, 724
HP:0001249HP:0001249Intellectual disability0COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiency136
HP:0001249HP:0001249Intellectual disability0COQ8A CL E G H5699716812OMIM:612016Coenzyme Q10 deficiency, primary, 4HP:0040283 - Occasional136
HP:0001249HP:0001249Intellectual disability0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophy104
HP:0001249HP:0001249Intellectual disability0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional6
HP:0001249HP:0001249Intellectual disability0COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 76
HP:0001249HP:0001249Intellectual disability0CPA6 CL E G H5709417245OMIM:614417Epilepsy, familial temporal lobe, 549
HP:0001249HP:0001249Intellectual disability0CPE CL E G H13632303OMIM:619326BDV SYNDROME; BDVS
HP:0001249HP:0001249Intellectual disability0CPLANE1 CL E G H6525025801ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI.
HP:0001249HP:0001249Intellectual disability0CPLX1 CL E G H108152309OMIM:617976Epileptic encephalopathy, early infantile, 63.1
HP:0001249HP:0001249Intellectual disability0CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsy1
HP:0001249HP:0001249Intellectual disability0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0001249HP:0001249Intellectual disability0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndrome1
HP:0001249HP:0001249Intellectual disability0CPS1 CL E G H13732323OMIM:237300Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to.124
HP:0001249HP:0001249Intellectual disability0CPSF3 CL E G H516922326OMIM:619876
HP:0001249HP:0001249Intellectual disability0CRADD CL E G H87382340OMIM:614499Mental retardation, autosomal recessive 34, with variant lissencephaly.6
HP:0001249HP:0001249Intellectual disability0CRB1 CL E G H234182343ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional156
HP:0001249HP:0001249Intellectual disability0CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent156
HP:0001249HP:0001249Intellectual disability0CRBN CL E G H5118530185OMIM:607417Mental retardation, autosomal recessive 219
HP:0001249HP:0001249Intellectual disability0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0001249HP:0001249Intellectual disability0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0001249HP:0001249Intellectual disability0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040281 - Very frequent291
HP:0001249HP:0001249Intellectual disability0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040281 - Very frequent291
HP:0001249HP:0001249Intellectual disability0CRH CL E G H13922355ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy1
HP:0001249HP:0001249Intellectual disability0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 1HP:0040283 - Occasional24
HP:0001249HP:0001249Intellectual disability0CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0001249HP:0001249Intellectual disability0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0CRX CL E G H14062383ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional158
HP:0001249HP:0001249Intellectual disability0CRX CL E G H14062383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent158
HP:0001249HP:0001249Intellectual disability0CSF1R CL E G H14362433OMIM:618476Brain abnormalities, neurodegeneration, and dysosteosclerosis149
HP:0001249HP:0001249Intellectual disability0CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome.12
HP:0001249HP:0001249Intellectual disability0CSNK2B CL E G H14602460OMIM:618732POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS2
HP:0001249HP:0001249Intellectual disability0CSPP1 CL E G H7984826193ORPHA:475Joubert syndromeHP:0040281 - Very frequent57
HP:0001249HP:0001249Intellectual disability0CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 21.57
HP:0001249HP:0001249Intellectual disability0CSTB CL E G H14762482OMIM:254800Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)51
HP:0001249HP:0001249Intellectual disability0CSTB CL E G H14762482ORPHA:308Progressive myoclonic epilepsy type 1HP:0040283 - Occasional51
HP:0001249HP:0001249Intellectual disability0CTBP1 CL E G H14872494OMIM:617915Hypotonia, ataxia, developmental delay, and tooth enamel defect syndromeHP:0040284 - Very rare2
HP:0001249HP:0001249Intellectual disability0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndrome2
HP:0001249HP:0001249Intellectual disability0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001249HP:0001249Intellectual disability0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040282 - Frequent20
HP:0001249HP:0001249Intellectual disability0CTCF CL E G H1066413723OMIM:615502Mental retardation, autosomal dominant 2120
HP:0001249HP:0001249Intellectual disability0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy.17
HP:0001249HP:0001249Intellectual disability0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndrome17
HP:0001249HP:0001249Intellectual disability0CTH CL E G H14912501ORPHA:212CystathioninuriaHP:0040282 - Frequent38
HP:0001249HP:0001249Intellectual disability0CTNNA2 CL E G H14962510OMIM:618174Cortical dysplasia, complex, with other brain malformations 92
HP:0001249HP:0001249Intellectual disability0CTNNB1 CL E G H14992514ORPHA:54595CraniopharyngiomaHP:0040284 - Very rare88
HP:0001249HP:0001249Intellectual disability0CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathy88
HP:0001249HP:0001249Intellectual disability0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects.88
HP:0001249HP:0001249Intellectual disability0CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndromeHP:0040281 - Very frequent88
HP:0001249HP:0001249Intellectual disability0CTNND2 CL E G H15012516ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040283 - Occasional15
HP:0001249HP:0001249Intellectual disability0CTNND2 CL E G H15012516ORPHA:281Monosomy 5p15
HP:0001249HP:0001249Intellectual disability0CTSA CL E G H54769251ORPHA:351GalactosialidosisHP:0040281 - Very frequent51
HP:0001249HP:0001249Intellectual disability0CTSA CL E G H54769251OMIM:256540Galactosialidosis51
HP:0001249HP:0001249Intellectual disability0CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10159
HP:0001249HP:0001249Intellectual disability0CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0001249HP:0001249Intellectual disability0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0001249HP:0001249Intellectual disability0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas type38
HP:0001249HP:0001249Intellectual disability0CUX1 CL E G H15232557OMIM:618330Global developmental delay with or without impaired intellectual developmentHP:0040284 - Very rare1
HP:0001249HP:0001249Intellectual disability0CUX2 CL E G H2331619347ORPHA:2382Lennox-Gastaut syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040282 - Frequent4
HP:0001249HP:0001249Intellectual disability0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0001249HP:0001249Intellectual disability0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency9
HP:0001249HP:0001249Intellectual disability0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 17.9
HP:0001249HP:0001249Intellectual disability0CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemia2
HP:0001249HP:0001249Intellectual disability0CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemia24
HP:0001249HP:0001249Intellectual disability0CYB5R3 CL E G H17272873OMIM:250800Methemoglobinemia due to deficiency of methemoglobin reductase.24
HP:0001249HP:0001249Intellectual disability0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001249HP:0001249Intellectual disability0CYP24A1 CL E G H15912602OMIM:143880Hypercalcemia, infantile, 1.73
HP:0001249HP:0001249Intellectual disability0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040282 - Frequent114
HP:0001249HP:0001249Intellectual disability0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis.114
HP:0001249HP:0001249Intellectual disability0CYP2U1 CL E G H11361220582ORPHA:320411Autosomal recessive spastic paraplegia type 56HP:0040283 - Occasional18
HP:0001249HP:0001249Intellectual disability0CYP2U1 CL E G H11361220582OMIM:615030Spastic paraplegia 56, autosomal recessive18
HP:0001249HP:0001249Intellectual disability0D2HGDH CL E G H72829428358OMIM:600721D-2-Hydroxyglutaric aciduria 1.102
HP:0001249HP:0001249Intellectual disability0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional2
HP:0001249HP:0001249Intellectual disability0DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16108
HP:0001249HP:0001249Intellectual disability0DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophy108
HP:0001249HP:0001249Intellectual disability0DAG1 CL E G H16052666OMIM:613818Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9.108
HP:0001249HP:0001249Intellectual disability0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent108
HP:0001249HP:0001249Intellectual disability0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0DARS1 CL E G H16152678OMIM:615281HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0001249HP:0001249Intellectual disability0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040284 - Very rare60
HP:0001249HP:0001249Intellectual disability0DBT CL E G H16292698OMIM:248600Maple syrup urine disease.156
HP:0001249HP:0001249Intellectual disability0DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome.87
HP:0001249HP:0001249Intellectual disability0DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndrome87
HP:0001249HP:0001249Intellectual disability0DCC CL E G H16302701ORPHA:238722Familial congenital mirror movements36
HP:0001249HP:0001249Intellectual disability0DCC CL E G H16302701OMIM:617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS236
HP:0001249HP:0001249Intellectual disability0DCC CL E G H16302701OMIM:157600Mirror movements 136
HP:0001249HP:0001249Intellectual disability0DCDC2 CL E G H5147318141OMIM:617394Sclerosing cholangitis, neonatal8
HP:0001249HP:0001249Intellectual disability0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndrome27
HP:0001249HP:0001249Intellectual disability0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0001249HP:0001249Intellectual disability0DCX CL E G H16412714OMIM:300067Lissencephaly, X-linked, 1.145
HP:0001249HP:0001249Intellectual disability0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0001249HP:0001249Intellectual disability0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosum30
HP:0001249HP:0001249Intellectual disability0DDHD2 CL E G H2325929106ORPHA:320380Autosomal recessive spastic paraplegia type 54HP:0040281 - Very frequent29
HP:0001249HP:0001249Intellectual disability0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive.29
HP:0001249HP:0001249Intellectual disability0DDX11 CL E G H16632736OMIM:613398Warsaw breakage syndrome.13
HP:0001249HP:0001249Intellectual disability0DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0001249HP:0001249Intellectual disability0DDX3X CL E G H16542745ORPHA:457260X-linked intellectual disability-hypotonia-movement disorder syndromeHP:0040280 - Obligate57
HP:0001249HP:0001249Intellectual disability0DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 5HP:0040282 - Frequent2
HP:0001249HP:0001249Intellectual disability0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V.2
HP:0001249HP:0001249Intellectual disability0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001249HP:0001249Intellectual disability0DEAF1 CL E G H1052214677OMIM:617171Dyskinesia, seizures, and intellectual developmental disorder.33
HP:0001249HP:0001249Intellectual disability0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndromeHP:0040281 - Very frequent33
HP:0001249HP:0001249Intellectual disability0DEAF1 CL E G H1052214677OMIM:615828Mental retardation, autosomal dominant 24.33
HP:0001249HP:0001249Intellectual disability0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0001249HP:0001249Intellectual disability0DEPDC5 CL E G H968118423ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy172
HP:0001249HP:0001249Intellectual disability0DEPDC5 CL E G H968118423OMIM:604364Epilepsy, familial focal, with variable fociHP:0040283 - Occasional172
HP:0001249HP:0001249Intellectual disability0DEPDC5 CL E G H968118423ORPHA:98820Familial focal epilepsy with variable fociHP:0040283 - Occasional172
HP:0001249HP:0001249Intellectual disability0DGCR2 CL E G H99932845OMIM:192430Velocardiofacial syndrome
HP:0001249HP:0001249Intellectual disability0DGCR6 CL E G H82142846OMIM:192430Velocardiofacial syndrome
HP:0001249HP:0001249Intellectual disability0DGCR8 CL E G H544872847OMIM:192430Velocardiofacial syndrome
HP:0001249HP:0001249Intellectual disability0DHCR24 CL E G H17182859ORPHA:35107DesmosterolosisHP:0040281 - Very frequent72
HP:0001249HP:0001249Intellectual disability0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040281 - Very frequent159
HP:0001249HP:0001249Intellectual disability0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0001249HP:0001249Intellectual disability0DHDDS CL E G H7994720603OMIM:617836Developmental delay and seizures with or without movement abnormalities.47
HP:0001249HP:0001249Intellectual disability0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent47
HP:0001249HP:0001249Intellectual disability0DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0001249HP:0001249Intellectual disability0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0001249HP:0001249Intellectual disability0DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language.4
HP:0001249HP:0001249Intellectual disability0DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0001249HP:0001249Intellectual disability0DIAPH1 CL E G H17292876ORPHA:2573Moyamoya diseaseHP:0040282 - Frequent118
HP:0001249HP:0001249Intellectual disability0DIP2B CL E G H5760929284OMIM:136630Mental retardation, Fra12a type.4
HP:0001249HP:0001249Intellectual disability0DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndromeHP:0040281 - Very frequent164
HP:0001249HP:0001249Intellectual disability0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0001249HP:0001249Intellectual disability0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent22
HP:0001249HP:0001249Intellectual disability0DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent22
HP:0001249HP:0001249Intellectual disability0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0001249HP:0001249Intellectual disability0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0001249HP:0001249Intellectual disability0DISP1 CL E G H8497619711ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent22
HP:0001249HP:0001249Intellectual disability0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0001249HP:0001249Intellectual disability0DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent65
HP:0001249HP:0001249Intellectual disability0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency82
HP:0001249HP:0001249Intellectual disability0DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiency82
HP:0001249HP:0001249Intellectual disability0DLG3 CL E G H17412902OMIM:300850MENTAL RETARDATION, X-LINKED 90; MRX9030
HP:0001249HP:0001249Intellectual disability0DLG4 CL E G H17422903OMIM:618793INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD622
HP:0001249HP:0001249Intellectual disability0DLK1 CL E G H87882907ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation1
HP:0001249HP:0001249Intellectual disability0DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0001249HP:0001249Intellectual disability0DLK1 CL E G H87882907ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional1
HP:0001249HP:0001249Intellectual disability0DLK1 CL E G H87882907ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0001249HP:0001249Intellectual disability0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0001249HP:0001249Intellectual disability0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent3
HP:0001249HP:0001249Intellectual disability0DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent3
HP:0001249HP:0001249Intellectual disability0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0001249HP:0001249Intellectual disability0DLL1 CL E G H285142908OMIM:618709NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS3
HP:0001249HP:0001249Intellectual disability0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0001249HP:0001249Intellectual disability0DLL1 CL E G H285142908ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent3
HP:0001249HP:0001249Intellectual disability0DLL3 CL E G H106832909ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional45
HP:0001249HP:0001249Intellectual disability0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional9
HP:0001249HP:0001249Intellectual disability0DLX5 CL E G H17492918OMIM:183600Split-Hand/foot malformation 13
HP:0001249HP:0001249Intellectual disability0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy1496
HP:0001249HP:0001249Intellectual disability0DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1152
HP:0001249HP:0001249Intellectual disability0DMXL2 CL E G H233122938OMIM:618663DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE813
HP:0001249HP:0001249Intellectual disability0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent3
HP:0001249HP:0001249Intellectual disability0DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndrome3
HP:0001249HP:0001249Intellectual disability0DMXL2 CL E G H233122938OMIM:616113Polyendocrine-Polyneuropathy syndrome.3
HP:0001249HP:0001249Intellectual disability0DNA2 CL E G H17632939OMIM:615807Seckel syndrome 8.41
HP:0001249HP:0001249Intellectual disability0DNAJC12 CL E G H5652128908OMIM:617384Hyperphenylalaninemia, MILD, non-bh4-deficient3
HP:0001249HP:0001249Intellectual disability0DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V.25
HP:0001249HP:0001249Intellectual disability0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional5
HP:0001249HP:0001249Intellectual disability0DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 15
HP:0001249HP:0001249Intellectual disability0DNAJC3 CL E G H56119439ORPHA:445062Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome3
HP:0001249HP:0001249Intellectual disability0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0DNAJC6 CL E G H982915469ORPHA:391411Atypical juvenile parkinsonismHP:0040282 - Frequent6
HP:0001249HP:0001249Intellectual disability0DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onsetHP:0040283 - Occasional6
HP:0001249HP:0001249Intellectual disability0DNAL4 CL E G H101262955ORPHA:238722Familial congenital mirror movements2
HP:0001249HP:0001249Intellectual disability0DNM1 CL E G H17592972OMIM:616346Epileptic encephalopathy, early infantile, 31.72
HP:0001249HP:0001249Intellectual disability0DNM1 CL E G H17592972ORPHA:2382Lennox-Gastaut syndromeHP:0040281 - Very frequent72
HP:0001249HP:0001249Intellectual disability0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent72
HP:0001249HP:0001249Intellectual disability0DNMT3A CL E G H17882978OMIM:615879Tatton-Brown-Rahman syndrome.44
HP:0001249HP:0001249Intellectual disability0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndrome44
HP:0001249HP:0001249Intellectual disability0DNMT3B CL E G H17892979ORPHA:2268ICF syndromeHP:0040282 - Frequent79
HP:0001249HP:0001249Intellectual disability0DNMT3B CL E G H17892979OMIM:242860Immunodeficiency-Centromeric instability-facial anomalies syndrome.79
HP:0001249HP:0001249Intellectual disability0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional18
HP:0001249HP:0001249Intellectual disability0DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndromeHP:0040282 - Frequent11
HP:0001249HP:0001249Intellectual disability0DOHH CL E G H8347528662OMIM:620066
HP:0001249HP:0001249Intellectual disability0DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0001249HP:0001249Intellectual disability0DONSON CL E G H299802993OMIM:617604Microcephaly, short stature, and limb abnormalities9
HP:0001249HP:0001249Intellectual disability0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij.38
HP:0001249HP:0001249Intellectual disability0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDG38
HP:0001249HP:0001249Intellectual disability0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndrome
HP:0001249HP:0001249Intellectual disability0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7.
HP:0001249HP:0001249Intellectual disability0DPH1 CL E G H18013003OMIM:616901Developmental delay with short stature, dysmorphic features, and sparse hair.3
HP:0001249HP:0001249Intellectual disability0DPH5 CL E G H5161124270OMIM:620070
HP:0001249HP:0001249Intellectual disability0DPM3 CL E G H543443007ORPHA:263494DPM3-CDG9
HP:0001249HP:0001249Intellectual disability0DPP6 CL E G H18043010OMIM:616311MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD3318
HP:0001249HP:0001249Intellectual disability0DPYD CL E G H18063012ORPHA:2939481p21.3 microdeletion syndromeHP:0040281 - Very frequent144
HP:0001249HP:0001249Intellectual disability0DPYD CL E G H18063012OMIM:274270Dihydropyrimidine dehydrogenase deficiency.144
HP:0001249HP:0001249Intellectual disability0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiency144
HP:0001249HP:0001249Intellectual disability0DPYS CL E G H18073013OMIM:222748Dihydropyrimidinuria.44
HP:0001249HP:0001249Intellectual disability0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001249HP:0001249Intellectual disability0DSG4 CL E G H14740921307ORPHA:573MonilethrixHP:0040283 - Occasional63
HP:0001249HP:0001249Intellectual disability0DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 2313
HP:0001249HP:0001249Intellectual disability0DTYMK CL E G H18413061OMIM:619847
HP:0001249HP:0001249Intellectual disability0DUOX2 CL E G H5050613273ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional121
HP:0001249HP:0001249Intellectual disability0DUOXA2 CL E G H40575332698ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional11
HP:0001249HP:0001249Intellectual disability0DUOXA2 CL E G H40575332698OMIM:274900Thyroid hormonogenesis, genetic defect in, 5.11
HP:0001249HP:0001249Intellectual disability0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional14
HP:0001249HP:0001249Intellectual disability0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0001249HP:0001249Intellectual disability0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional5
HP:0001249HP:0001249Intellectual disability0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040281 - Very frequent65
HP:0001249HP:0001249Intellectual disability0DYNC1H1 CL E G H17782961OMIM:614563Mental retardation, autosomal dominant 13.427
HP:0001249HP:0001249Intellectual disability0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0001249HP:0001249Intellectual disability0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional7
HP:0001249HP:0001249Intellectual disability0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040281 - Very frequent134
HP:0001249HP:0001249Intellectual disability0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040281 - Very frequent134
HP:0001249HP:0001249Intellectual disability0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0001249HP:0001249Intellectual disability0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0001249HP:0001249Intellectual disability0EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant51
HP:0001249HP:0001249Intellectual disability0EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
HP:0001249HP:0001249Intellectual disability0EBP CL E G H106823133OMIM:300960Mend syndrome.51
HP:0001249HP:0001249Intellectual disability0ECE1 CL E G H18893146ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional13
HP:0001249HP:0001249Intellectual disability0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophy33
HP:0001249HP:0001249Intellectual disability0EDC3 CL E G H8015326114OMIM:616460Mental retardation, autosomal recessive 50.1
HP:0001249HP:0001249Intellectual disability0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0001249HP:0001249Intellectual disability0EDN3 CL E G H19083178ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional67
HP:0001249HP:0001249Intellectual disability0EDNRB CL E G H19103180ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional55
HP:0001249HP:0001249Intellectual disability0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome4
HP:0001249HP:0001249Intellectual disability0EED CL E G H87263188ORPHA:3447Weaver syndromeHP:0040281 - Very frequent4
HP:0001249HP:0001249Intellectual disability0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 38.60
HP:0001249HP:0001249Intellectual disability0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent60
HP:0001249HP:0001249Intellectual disability0EFEMP2 CL E G H300083219ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040284 - Very rare45
HP:0001249HP:0001249Intellectual disability0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional1
HP:0001249HP:0001249Intellectual disability0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040282 - Frequent27
HP:0001249HP:0001249Intellectual disability0EFTUD2 CL E G H934330858ORPHA:79113Mandibulofacial dysostosis-microcephaly syndromeHP:0040281 - Very frequent48
HP:0001249HP:0001249Intellectual disability0EGF CL E G H19503229OMIM:611718HYPOMAGNESEMIA 4, RENAL; HOMG473
HP:0001249HP:0001249Intellectual disability0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0001249HP:0001249Intellectual disability0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040281 - Very frequent223
HP:0001249HP:0001249Intellectual disability0EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040281 - Very frequent223
HP:0001249HP:0001249Intellectual disability0EIF2AK2 CL E G H56109437OMIM:619687DYSTONIA 33; DYT33
HP:0001249HP:0001249Intellectual disability0EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndromeHP:0040283 - Occasional65
HP:0001249HP:0001249Intellectual disability0EIF2S3 CL E G H19683267ORPHA:85282MEHMO syndrome8
HP:0001249HP:0001249Intellectual disability0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome.8
HP:0001249HP:0001249Intellectual disability0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0ELMO2 CL E G H6391617233ORPHA:3019Ramon syndromeHP:0040281 - Very frequent3
HP:0001249HP:0001249Intellectual disability0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0001249HP:0001249Intellectual disability0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0001249HP:0001249Intellectual disability0ELOVL4 CL E G H678514415OMIM:614457Ichthyosis, spastic quadriplegia, and mental retardation62
HP:0001249HP:0001249Intellectual disability0ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 586
HP:0001249HP:0001249Intellectual disability0EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation.5
HP:0001249HP:0001249Intellectual disability0EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome5
HP:0001249HP:0001249Intellectual disability0EMC10 CL E G H28436127609OMIM:619264NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0001249HP:0001249Intellectual disability0EMILIN1 CL E G H1111719880OMIM:6200802
HP:0001249HP:0001249Intellectual disability0EML1 CL E G H20093330OMIM:600348Band heterotopia3
HP:0001249HP:0001249Intellectual disability0ENTPD1 CL E G H9533363ORPHA:401810Autosomal recessive spastic paraplegia type 643
HP:0001249HP:0001249Intellectual disability0ENTPD1 CL E G H9533363OMIM:615683Spastic paraplegia 64, autosomal recessive3
HP:0001249HP:0001249Intellectual disability0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional4
HP:0001249HP:0001249Intellectual disability0EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0001249HP:0001249Intellectual disability0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0001249HP:0001249Intellectual disability0EP300 CL E G H20333373OMIM:613684Rubinstein-Taybi syndrome 2250
HP:0001249HP:0001249Intellectual disability0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040283 - Occasional250
HP:0001249HP:0001249Intellectual disability0EPB41L1 CL E G H20363378OMIM:614257MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD1129
HP:0001249HP:0001249Intellectual disability0EPG5 CL E G H5772429331ORPHA:1493Vici syndromeHP:0040281 - Very frequent40
HP:0001249HP:0001249Intellectual disability0ERBB2 CL E G H20643430ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional77
HP:0001249HP:0001249Intellectual disability0ERBB3 CL E G H20653431ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional12
HP:0001249HP:0001249Intellectual disability0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040281 - Very frequent20
HP:0001249HP:0001249Intellectual disability0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive.106
HP:0001249HP:0001249Intellectual disability0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosum106
HP:0001249HP:0001249Intellectual disability0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D.106
HP:0001249HP:0001249Intellectual disability0ERCC2 CL E G H20683434ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent106
HP:0001249HP:0001249Intellectual disability0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosum54
HP:0001249HP:0001249Intellectual disability0ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B.54
HP:0001249HP:0001249Intellectual disability0ERCC3 CL E G H20713435ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent54
HP:0001249HP:0001249Intellectual disability0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040281 - Very frequent158
HP:0001249HP:0001249Intellectual disability0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040282 - Frequent158
HP:0001249HP:0001249Intellectual disability0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosum158
HP:0001249HP:0001249Intellectual disability0ERCC4 CL E G H20723436OMIM:278760Xeroderma pigmentosum, complementation group FHP:0040283 - Occasional158
HP:0001249HP:0001249Intellectual disability0ERCC4 CL E G H20723436ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent158
HP:0001249HP:0001249Intellectual disability0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome158
HP:0001249HP:0001249Intellectual disability0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosum83
HP:0001249HP:0001249Intellectual disability0ERCC5 CL E G H20733437ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent83
HP:0001249HP:0001249Intellectual disability0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1.199
HP:0001249HP:0001249Intellectual disability0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040281 - Very frequent199
HP:0001249HP:0001249Intellectual disability0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040281 - Very frequent199
HP:0001249HP:0001249Intellectual disability0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0001249HP:0001249Intellectual disability0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0001249HP:0001249Intellectual disability0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome.199
HP:0001249HP:0001249Intellectual disability0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0001249HP:0001249Intellectual disability0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040281 - Very frequent55
HP:0001249HP:0001249Intellectual disability0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040281 - Very frequent55
HP:0001249HP:0001249Intellectual disability0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0001249HP:0001249Intellectual disability0ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 18HP:0040281 - Very frequent18
HP:0001249HP:0001249Intellectual disability0ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome18
HP:0001249HP:0001249Intellectual disability0ERLIN2 CL E G H111601356OMIM:611225Spastic paraplegia 18, autosomal recessiveHP:0040283 - Occasional18
HP:0001249HP:0001249Intellectual disability0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndrome36
HP:0001249HP:0001249Intellectual disability0ESCO2 CL E G H15757027230OMIM:216100Cleft lip/palate with abnormal thumbs and microcephaly.92
HP:0001249HP:0001249Intellectual disability0ESCO2 CL E G H15757027230ORPHA:2319Juberg-Hayward syndromeHP:0040282 - Frequent92
HP:0001249HP:0001249Intellectual disability0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0001249HP:0001249Intellectual disability0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040282 - Frequent92
HP:0001249HP:0001249Intellectual disability0ESPN CL E G H8371513281ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent33
HP:0001249HP:0001249Intellectual disability0ESS2 CL E G H822016817OMIM:192430Velocardiofacial syndrome
HP:0001249HP:0001249Intellectual disability0ETHE1 CL E G H2347423287OMIM:602473Encephalopathy, ethylmalonic.42
HP:0001249HP:0001249Intellectual disability0ETHE1 CL E G H2347423287ORPHA:51188Ethylmalonic encephalopathyHP:0040282 - Frequent42
HP:0001249HP:0001249Intellectual disability0EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional209
HP:0001249HP:0001249Intellectual disability0EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndromeHP:0040283 - Occasional209
HP:0001249HP:0001249Intellectual disability0EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional137
HP:0001249HP:0001249Intellectual disability0EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndromeHP:0040283 - Occasional137
HP:0001249HP:0001249Intellectual disability0EXOC6B CL E G H2323317085ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040283 - Occasional3
HP:0001249HP:0001249Intellectual disability0EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0001249HP:0001249Intellectual disability0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0001249HP:0001249Intellectual disability0EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040282 - Frequent96
HP:0001249HP:0001249Intellectual disability0EXT2 CL E G H21323513ORPHA:52022Potocki-Shaffer syndromeHP:0040283 - Occasional102
HP:0001249HP:0001249Intellectual disability0EXT2 CL E G H21323513ORPHA:466926Seizures-scoliosis-macrocephaly syndrome102
HP:0001249HP:0001249Intellectual disability0EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalities.3
HP:0001249HP:0001249Intellectual disability0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040282 - Frequent3
HP:0001249HP:0001249Intellectual disability0EYA1 CL E G H21383519ORPHA:2792Otofaciocervical syndromeHP:0040281 - Very frequent135
HP:0001249HP:0001249Intellectual disability0EYS CL E G H34600721555ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent209
HP:0001249HP:0001249Intellectual disability0EZH2 CL E G H21463527ORPHA:3447Weaver syndromeHP:0040281 - Very frequent81
HP:0001249HP:0001249Intellectual disability0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0001249HP:0001249Intellectual disability0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 35HP:0040282 - Frequent76
HP:0001249HP:0001249Intellectual disability0FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive.76
HP:0001249HP:0001249Intellectual disability0FAM149B1 CL E G H31766229162OMIM:618763JOUBERT SYNDROME 36; JBTS36
HP:0001249HP:0001249Intellectual disability0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent56
HP:0001249HP:0001249Intellectual disability0FAM50A CL E G H913018786OMIM:300261Mental retardation syndrome, X-linked, Armfield type.
HP:0001249HP:0001249Intellectual disability0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040282 - Frequent340
HP:0001249HP:0001249Intellectual disability0FANCA CL E G H21753582OMIM:227650Fanconi anemia.340
HP:0001249HP:0001249Intellectual disability0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040282 - Frequent58
HP:0001249HP:0001249Intellectual disability0FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0001249HP:0001249Intellectual disability0FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalusHP:0040281 - Very frequent58
HP:0001249HP:0001249Intellectual disability0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040282 - Frequent410
HP:0001249HP:0001249Intellectual disability0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C.410
HP:0001249HP:0001249Intellectual disability0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040282 - Frequent147
HP:0001249HP:0001249Intellectual disability0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0001249HP:0001249Intellectual disability0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040282 - Frequent73
HP:0001249HP:0001249Intellectual disability0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E.73
HP:0001249HP:0001249Intellectual disability0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040282 - Frequent87
HP:0001249HP:0001249Intellectual disability0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040282 - Frequent73
HP:0001249HP:0001249Intellectual disability0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040282 - Frequent157
HP:0001249HP:0001249Intellectual disability0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040282 - Frequent53
HP:0001249HP:0001249Intellectual disability0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040282 - Frequent107
HP:0001249HP:0001249Intellectual disability0FAR1 CL E G H8418826222ORPHA:438178Fatty acyl-CoA reductase 1 deficiencyHP:0040282 - Frequent7
HP:0001249HP:0001249Intellectual disability0FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0001249HP:0001249Intellectual disability0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndrome114
HP:0001249HP:0001249Intellectual disability0FAT4 CL E G H7963323109OMIM:616006HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2114
HP:0001249HP:0001249Intellectual disability0FAT4 CL E G H7963323109ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent114
HP:0001249HP:0001249Intellectual disability0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0001249HP:0001249Intellectual disability0FBLN1 CL E G H21923600ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome12
HP:0001249HP:0001249Intellectual disability0FBLN5 CL E G H105163602ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040284 - Very rare63
HP:0001249HP:0001249Intellectual disability0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndromeHP:0040281 - Very frequent1361
HP:0001249HP:0001249Intellectual disability0FBN1 CL E G H22003603ORPHA:3449Weill-Marchesani syndrome1361
HP:0001249HP:0001249Intellectual disability0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0001249HP:0001249Intellectual disability0FBP1 CL E G H22033606ORPHA:348Fructose-1,6-bisphosphatase deficiencyHP:0040283 - Occasional64
HP:0001249HP:0001249Intellectual disability0FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0001249HP:0001249Intellectual disability0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.7
HP:0001249HP:0001249Intellectual disability0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001249HP:0001249Intellectual disability0FBXO31 CL E G H7979116510OMIM:615979Mental retardation, autosomal recessive 45.8
HP:0001249HP:0001249Intellectual disability0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0001249HP:0001249Intellectual disability0FBXW7 CL E G H5529416712OMIM:62001222
HP:0001249HP:0001249Intellectual disability0FCSK CL E G H19725829500OMIM:618324Congenital disorder of glycosylation with defective fucosylation 2
HP:0001249HP:0001249Intellectual disability0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0001249HP:0001249Intellectual disability0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0001249HP:0001249Intellectual disability0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001249HP:0001249Intellectual disability0FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 2747
HP:0001249HP:0001249Intellectual disability0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0001249HP:0001249Intellectual disability0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent17
HP:0001249HP:0001249Intellectual disability0FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent17
HP:0001249HP:0001249Intellectual disability0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0001249HP:0001249Intellectual disability0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0001249HP:0001249Intellectual disability0FGF8 CL E G H22533686ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent17
HP:0001249HP:0001249Intellectual disability0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040281 - Very frequent172
HP:0001249HP:0001249Intellectual disability0FGFR1 CL E G H22603688OMIM:147950Hypogonadotropic hypogonadism 2 with or without anosmia.172
HP:0001249HP:0001249Intellectual disability0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent172
HP:0001249HP:0001249Intellectual disability0FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent172
HP:0001249HP:0001249Intellectual disability0FGFR1 CL E G H22603688ORPHA:2645Osteoglosphonic dysplasiaHP:0040283 - Occasional172
HP:0001249HP:0001249Intellectual disability0FGFR1 CL E G H22603688OMIM:101600Pfeiffer syndrome.172
HP:0001249HP:0001249Intellectual disability0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0001249HP:0001249Intellectual disability0FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional172
HP:0001249HP:0001249Intellectual disability0FGFR2 CL E G H22633689OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.175
HP:0001249HP:0001249Intellectual disability0FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0001249HP:0001249Intellectual disability0FGFR2 CL E G H22633689ORPHA:87Apert syndromeHP:0040282 - Frequent175
HP:0001249HP:0001249Intellectual disability0FGFR2 CL E G H22633689OMIM:123500Crouzon syndromeHP:0040283 - Occasional175
HP:0001249HP:0001249Intellectual disability0FGFR2 CL E G H22633689ORPHA:168624Familial scaphocephaly syndrome, McGillivray type175
HP:0001249HP:0001249Intellectual disability0FGFR2 CL E G H22633689OMIM:609579Familial scaphocephaly syndrome, Mcgillivray type.175
HP:0001249HP:0001249Intellectual disability0FGFR2 CL E G H22633689OMIM:101600Pfeiffer syndrome.175
HP:0001249HP:0001249Intellectual disability0FGFR2 CL E G H22633689ORPHA:93259Pfeiffer syndrome type 2HP:0040282 - Frequent175
HP:0001249HP:0001249Intellectual disability0FGFR2 CL E G H22633689ORPHA:93260Pfeiffer syndrome type 3HP:0040282 - Frequent175
HP:0001249HP:0001249Intellectual disability0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndrome175
HP:0001249HP:0001249Intellectual disability0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndromeHP:0040283 - Occasional175
HP:0001249HP:0001249Intellectual disability0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans.145
HP:0001249HP:0001249Intellectual disability0FGFR3 CL E G H22613690OMIM:610474Camptodactyly, tall stature, and hearing loss syndrome.145
HP:0001249HP:0001249Intellectual disability0FGFR3 CL E G H22613690OMIM:146000HYPOCHONDROPLASIAHP:0040283 - Occasional145
HP:0001249HP:0001249Intellectual disability0FGFR3 CL E G H22613690ORPHA:429HypochondroplasiaHP:0040283 - Occasional145
HP:0001249HP:0001249Intellectual disability0FGFR3 CL E G H22613690ORPHA:35099Isolated brachycephalyHP:0040283 - Occasional145
HP:0001249HP:0001249Intellectual disability0FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0001249HP:0001249Intellectual disability0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndrome145
HP:0001249HP:0001249Intellectual disability0FGFR3 CL E G H22613690ORPHA:85165Severe achondroplasia-developmental delay-acanthosis nigricans syndrome145
HP:0001249HP:0001249Intellectual disability0FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1145
HP:0001249HP:0001249Intellectual disability0FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I145
HP:0001249HP:0001249Intellectual disability0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0001249HP:0001249Intellectual disability0FH CL E G H22713700OMIM:606812Fumarase deficiency301
HP:0001249HP:0001249Intellectual disability0FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndromeHP:0040282 - Frequent2
HP:0001249HP:0001249Intellectual disability0FIBP CL E G H91583705OMIM:617107Thauvin-Robinet-Faivre syndrome2
HP:0001249HP:0001249Intellectual disability0FIG4 CL E G H989616873ORPHA:208441Bilateral parasagittal parieto-occipital polymicrogyriaHP:0040282 - Frequent111
HP:0001249HP:0001249Intellectual disability0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvement157
HP:0001249HP:0001249Intellectual disability0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040281 - Very frequent157
HP:0001249HP:0001249Intellectual disability0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0001249HP:0001249Intellectual disability0FKRP CL E G H7914717997OMIM:613153MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5157
HP:0001249HP:0001249Intellectual disability0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0001249HP:0001249Intellectual disability0FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent157
HP:0001249HP:0001249Intellectual disability0FKTN CL E G H22183622ORPHA:272Congenital muscular dystrophy, Fukuyama type184
HP:0001249HP:0001249Intellectual disability0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0001249HP:0001249Intellectual disability0FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4.184
HP:0001249HP:0001249Intellectual disability0FKTN CL E G H22183622ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent184
HP:0001249HP:0001249Intellectual disability0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0001249HP:0001249Intellectual disability0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040281 - Very frequent8
HP:0001249HP:0001249Intellectual disability0FLI1 CL E G H23133749ORPHA:851Paris-Trousseau thrombocytopeniaHP:0040282 - Frequent8
HP:0001249HP:0001249Intellectual disability0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia.493
HP:0001249HP:0001249Intellectual disability0FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasiaHP:0040283 - Occasional493
HP:0001249HP:0001249Intellectual disability0FLNA CL E G H23163754OMIM:300049Heterotopia, periventricular, X-linked dominant493
HP:0001249HP:0001249Intellectual disability0FLNA CL E G H23163754ORPHA:90650Otopalatodigital syndrome type 1493
HP:0001249HP:0001249Intellectual disability0FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2HP:0040282 - Frequent493
HP:0001249HP:0001249Intellectual disability0FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I493
HP:0001249HP:0001249Intellectual disability0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0001249HP:0001249Intellectual disability0FLNB CL E G H23173755OMIM:150250Larsen syndrome.233
HP:0001249HP:0001249Intellectual disability0FLNB CL E G H23173755ORPHA:503Larsen syndromeHP:0040283 - Occasional233
HP:0001249HP:0001249Intellectual disability0FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosaHP:0040283 - Occasional111
HP:0001249HP:0001249Intellectual disability0FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndromeHP:0040282 - Frequent111
HP:0001249HP:0001249Intellectual disability0FMN2 CL E G H5677614074OMIM:616193MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT4744
HP:0001249HP:0001249Intellectual disability0FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome30
HP:0001249HP:0001249Intellectual disability0FMR1 CL E G H23323775ORPHA:908Fragile X syndrome30
HP:0001249HP:0001249Intellectual disability0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040283 - Occasional30
HP:0001249HP:0001249Intellectual disability0FMR1 CL E G H23323775ORPHA:261483Xq27.3q28 duplication syndrome30
HP:0001249HP:0001249Intellectual disability0FOLR1 CL E G H23483791OMIM:613068Neurodegeneration due to cerebral folate transport deficiency.47
HP:0001249HP:0001249Intellectual disability0FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophyHP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0FOXE1 CL E G H23043806ORPHA:95713Athyreosis9
HP:0001249HP:0001249Intellectual disability0FOXE1 CL E G H23043806ORPHA:1226Bamforth-Lazarus syndromeHP:0040281 - Very frequent9
HP:0001249HP:0001249Intellectual disability0FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletion177
HP:0001249HP:0001249Intellectual disability0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0001249HP:0001249Intellectual disability0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0001249HP:0001249Intellectual disability0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent48
HP:0001249HP:0001249Intellectual disability0FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent48
HP:0001249HP:0001249Intellectual disability0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0001249HP:0001249Intellectual disability0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0001249HP:0001249Intellectual disability0FOXH1 CL E G H89283814ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent48
HP:0001249HP:0001249Intellectual disability0FOXI1 CL E G H22993815OMIM:274600Pendred syndrome.33
HP:0001249HP:0001249Intellectual disability0FOXI1 CL E G H22993815ORPHA:705Pendred syndromeHP:0040283 - Occasional33
HP:0001249HP:0001249Intellectual disability0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndrome184
HP:0001249HP:0001249Intellectual disability0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0001249HP:0001249Intellectual disability0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophy61
HP:0001249HP:0001249Intellectual disability0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0001249HP:0001249Intellectual disability0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndromeHP:0040283 - Occasional353
HP:0001249HP:0001249Intellectual disability0FREM1 CL E G H15832623399OMIM:608980Bifid nose with or without anorectal and renal anomalies198
HP:0001249HP:0001249Intellectual disability0FREM2 CL E G H34164025396ORPHA:2052Fraser syndromeHP:0040283 - Occasional263
HP:0001249HP:0001249Intellectual disability0FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 1.1
HP:0001249HP:0001249Intellectual disability0FRMD4A CL E G H5569125491OMIM:616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia.1
HP:0001249HP:0001249Intellectual disability0FRMD4A CL E G H5569125491ORPHA:466688Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome1
HP:0001249HP:0001249Intellectual disability0FRMD5 CL E G H8497828214OMIM:620094
HP:0001249HP:0001249Intellectual disability0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0001249HP:0001249Intellectual disability0FRRS1L CL E G H237321362ORPHA:725Continuous spikes and waves during sleepHP:0040282 - Frequent4
HP:0001249HP:0001249Intellectual disability0FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 37.4
HP:0001249HP:0001249Intellectual disability0FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent26
HP:0001249HP:0001249Intellectual disability0FTCD CL E G H108413974ORPHA:51208Formiminoglutamic aciduria65
HP:0001249HP:0001249Intellectual disability0FTCD CL E G H108413974OMIM:229100Formiminotransferase deficiency.65
HP:0001249HP:0001249Intellectual disability0FTSJ1 CL E G H2414013254OMIM:309549Mental retardation, X-linked 913
HP:0001249HP:0001249Intellectual disability0FUCA1 CL E G H25174006ORPHA:349Fucosidosis43
HP:0001249HP:0001249Intellectual disability0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS.43
HP:0001249HP:0001249Intellectual disability0FUT8 CL E G H25304019OMIM:618005Congenital disorder of glycosylation with defective fucosylation 1.3
HP:0001249HP:0001249Intellectual disability0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional
HP:0001249HP:0001249Intellectual disability0FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathy109
HP:0001249HP:0001249Intellectual disability0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onsetHP:0040283 - Occasional407
HP:0001249HP:0001249Intellectual disability0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent5
HP:0001249HP:0001249Intellectual disability0GABBR2 CL E G H95684507OMIM:617904Epileptic encephalopathy, early infantile, 59.5
HP:0001249HP:0001249Intellectual disability0GABBR2 CL E G H95684507OMIM:617903Neurodevelopmental disorder with poor language and loss of hand skills.5
HP:0001249HP:0001249Intellectual disability0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent5
HP:0001249HP:0001249Intellectual disability0GABRA1 CL E G H25544075ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional134
HP:0001249HP:0001249Intellectual disability0GABRA1 CL E G H25544075OMIM:615744Epileptic encephalopathy, early infantile, 19.134
HP:0001249HP:0001249Intellectual disability0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent4
HP:0001249HP:0001249Intellectual disability0GABRA5 CL E G H25584079OMIM:618559DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0001249HP:0001249Intellectual disability0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0GABRB2 CL E G H25614082OMIM:617829Epileptic encephalopathy, infantile or early childhood, 2.44
HP:0001249HP:0001249Intellectual disability0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent44
HP:0001249HP:0001249Intellectual disability0GABRB3 CL E G H25624083ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional57
HP:0001249HP:0001249Intellectual disability0GABRB3 CL E G H25624083OMIM:617113Epileptic encephalopathy, early infantile, 43.57
HP:0001249HP:0001249Intellectual disability0GABRB3 CL E G H25624083ORPHA:2382Lennox-Gastaut syndromeHP:0040281 - Very frequent57
HP:0001249HP:0001249Intellectual disability0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent10
HP:0001249HP:0001249Intellectual disability0GABRG2 CL E G H25664087ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional139
HP:0001249HP:0001249Intellectual disability0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent139
HP:0001249HP:0001249Intellectual disability0GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsy139
HP:0001249HP:0001249Intellectual disability0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0001249HP:0001249Intellectual disability0GALE CL E G H25824116OMIM:230350Galactose epimerase deficiency.52
HP:0001249HP:0001249Intellectual disability0GALK1 CL E G H25844118ORPHA:79237Galactokinase deficiencyHP:0040283 - Occasional23
HP:0001249HP:0001249Intellectual disability0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0001249HP:0001249Intellectual disability0GALT CL E G H25924135ORPHA:79239Classic galactosemia351
HP:0001249HP:0001249Intellectual disability0GALT CL E G H25924135OMIM:230400GALACTOSEMIA.351
HP:0001249HP:0001249Intellectual disability0GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 2.91
HP:0001249HP:0001249Intellectual disability0GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiency91
HP:0001249HP:0001249Intellectual disability0GAN CL E G H81394137ORPHA:643Giant axonal neuropathyHP:0040282 - Frequent121
HP:0001249HP:0001249Intellectual disability0GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessiveHP:0040283 - Occasional121
HP:0001249HP:0001249Intellectual disability0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0001249HP:0001249Intellectual disability0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent2
HP:0001249HP:0001249Intellectual disability0GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent2
HP:0001249HP:0001249Intellectual disability0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0001249HP:0001249Intellectual disability0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0001249HP:0001249Intellectual disability0GAS1 CL E G H26194165ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent2
HP:0001249HP:0001249Intellectual disability0GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included.29
HP:0001249HP:0001249Intellectual disability0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndrome87
HP:0001249HP:0001249Intellectual disability0GATA6 CL E G H26274174ORPHA:2255Pancreatic hypoplasia-diabetes-congenital heart disease syndromeHP:0040282 - Frequent37
HP:0001249HP:0001249Intellectual disability0GATAD2B CL E G H5745930778OMIM:615074Mental retardation, autosomal dominant 1833
HP:0001249HP:0001249Intellectual disability0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome33
HP:0001249HP:0001249Intellectual disability0GATM CL E G H26284175OMIM:612718Cerebral creatine deficiency syndrome 3.86
HP:0001249HP:0001249Intellectual disability0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040283 - Occasional
HP:0001249HP:0001249Intellectual disability0GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticity30
HP:0001249HP:0001249Intellectual disability0GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessiveHP:0040283 - Occasional30
HP:0001249HP:0001249Intellectual disability0GBE1 CL E G H26324180ORPHA:206583Adult polyglucosan body diseaseHP:0040281 - Very frequent86
HP:0001249HP:0001249Intellectual disability0GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B86
HP:0001249HP:0001249Intellectual disability0GCK CL E G H26454195OMIM:602485Hyperinsulinemic hypoglycemia, familial, 3.237
HP:0001249HP:0001249Intellectual disability0GCK CL E G H26454195ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent237
HP:0001249HP:0001249Intellectual disability0GCLC CL E G H27294311ORPHA:33574Glutamate-cysteine ligase deficiencyHP:0040283 - Occasional2
HP:0001249HP:0001249Intellectual disability0GCSH CL E G H26534208OMIM:605899Glycine encephalopathy.5
HP:0001249HP:0001249Intellectual disability0GDF6 CL E G H3922554221ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional64
HP:0001249HP:0001249Intellectual disability0GDI1 CL E G H26644226OMIM:300849MENTAL RETARDATION, X-LINKED 41; MRX4120
HP:0001249HP:0001249Intellectual disability0GDNF CL E G H26684232ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional59
HP:0001249HP:0001249Intellectual disability0GGT1 CL E G H26784250OMIM:231950GLUTATHIONURIA.
HP:0001249HP:0001249Intellectual disability0GHR CL E G H26904263ORPHA:633Laron syndromeHP:0040283 - Occasional98
HP:0001249HP:0001249Intellectual disability0GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilisHP:0040283 - Occasional68
HP:0001249HP:0001249Intellectual disability0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040283 - Occasional68
HP:0001249HP:0001249Intellectual disability0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0001249HP:0001249Intellectual disability0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb.39
HP:0001249HP:0001249Intellectual disability0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb.34
HP:0001249HP:0001249Intellectual disability0GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilisHP:0040283 - Occasional74
HP:0001249HP:0001249Intellectual disability0GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilisHP:0040283 - Occasional12
HP:0001249HP:0001249Intellectual disability0GK CL E G H27104289OMIM:307030Glycerol kinase deficiency.13
HP:0001249HP:0001249Intellectual disability0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040281 - Very frequent120
HP:0001249HP:0001249Intellectual disability0GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I120
HP:0001249HP:0001249Intellectual disability0GLB1 CL E G H27204298OMIM:230650Gm1-gangliosidosis, type III120
HP:0001249HP:0001249Intellectual disability0GLDC CL E G H27314313OMIM:605899Glycine encephalopathy.166
HP:0001249HP:0001249Intellectual disability0GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional1
HP:0001249HP:0001249Intellectual disability0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0001249HP:0001249Intellectual disability0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent173
HP:0001249HP:0001249Intellectual disability0GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent173
HP:0001249HP:0001249Intellectual disability0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0001249HP:0001249Intellectual disability0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0001249HP:0001249Intellectual disability0GLI2 CL E G H27364318ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent173
HP:0001249HP:0001249Intellectual disability0GLI3 CL E G H27374319ORPHA:36Acrocallosal syndrome270
HP:0001249HP:0001249Intellectual disability0GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndrome270
HP:0001249HP:0001249Intellectual disability0GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0001249HP:0001249Intellectual disability0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040284 - Very rare270
HP:0001249HP:0001249Intellectual disability0GLRA1 CL E G H27414326ORPHA:3197Hereditary hyperekplexiaHP:0040283 - Occasional63
HP:0001249HP:0001249Intellectual disability0GLRA2 CL E G H27424327OMIM:301076INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0001249HP:0001249Intellectual disability0GLRB CL E G H27434329ORPHA:3197Hereditary hyperekplexiaHP:0040283 - Occasional46
HP:0001249HP:0001249Intellectual disability0GLRB CL E G H27434329OMIM:614619Hyperekplexia 246
HP:0001249HP:0001249Intellectual disability0GLUD1 CL E G H27464335OMIM:606762Hyperinsulinemic hypoglycemia, familial, 6.56
HP:0001249HP:0001249Intellectual disability0GLUD1 CL E G H27464335ORPHA:35878Hyperinsulinism-hyperammonemia syndrome56
HP:0001249HP:0001249Intellectual disability0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA.6
HP:0001249HP:0001249Intellectual disability0GLYCTK CL E G H13215824247ORPHA:941D-glyceric aciduriaHP:0040282 - Frequent6
HP:0001249HP:0001249Intellectual disability0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional3
HP:0001249HP:0001249Intellectual disability0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 6.3
HP:0001249HP:0001249Intellectual disability0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome.24
HP:0001249HP:0001249Intellectual disability0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvement34
HP:0001249HP:0001249Intellectual disability0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040281 - Very frequent34
HP:0001249HP:0001249Intellectual disability0GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19HP:0040282 - Frequent34
HP:0001249HP:0001249Intellectual disability0GMPPB CL E G H2992522932OMIM:615350MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14.34
HP:0001249HP:0001249Intellectual disability0GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14.34
HP:0001249HP:0001249Intellectual disability0GMPPB CL E G H2992522932OMIM:615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1434
HP:0001249HP:0001249Intellectual disability0GNAI1 CL E G H27704384OMIM:619854
HP:0001249HP:0001249Intellectual disability0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent36
HP:0001249HP:0001249Intellectual disability0GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movements.36
HP:0001249HP:0001249Intellectual disability0GNAQ CL E G H27764390ORPHA:624Familial multiple nevi flammeiHP:0040283 - Occasional7
HP:0001249HP:0001249Intellectual disability0GNAQ CL E G H27764390OMIM:185300Sturge-Weber syndrome.7
HP:0001249HP:0001249Intellectual disability0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040282 - Frequent7
HP:0001249HP:0001249Intellectual disability0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040282 - Frequent101
HP:0001249HP:0001249Intellectual disability0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040282 - Frequent101
HP:0001249HP:0001249Intellectual disability0GNAS CL E G H27784392OMIM:103580Pseudohypoparathyroidism, type IA.101
HP:0001249HP:0001249Intellectual disability0GNAS CL E G H27784392OMIM:612462Pseudohypoparathyroidism, type IC.101
HP:0001249HP:0001249Intellectual disability0GNAS CL E G H27784392ORPHA:79445PseudopseudohypoparathyroidismHP:0040283 - Occasional101
HP:0001249HP:0001249Intellectual disability0GNAS CL E G H27784392OMIM:612463PSEUDOPSEUDOHYPOPARATHYROIDISMHP:0040283 - Occasional101
HP:0001249HP:0001249Intellectual disability0GNB1 CL E G H27824396ORPHA:488613Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndromeHP:0040282 - Frequent12
HP:0001249HP:0001249Intellectual disability0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 42.12
HP:0001249HP:0001249Intellectual disability0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001249HP:0001249Intellectual disability0GNB5 CL E G H106814401ORPHA:542306GNB5-related intellectual disability-cardiac arrhythmia syndrome7
HP:0001249HP:0001249Intellectual disability0GNB5 CL E G H106814401OMIM:617173Intellectual developmental disorder with cardiac arrhythmia.7
HP:0001249HP:0001249Intellectual disability0GNB5 CL E G H106814401OMIM:617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmiaHP:0040283 - Occasional7
HP:0001249HP:0001249Intellectual disability0GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0001249HP:0001249Intellectual disability0GNE CL E G H1002023657ORPHA:3166Sialuria173
HP:0001249HP:0001249Intellectual disability0GNPAT CL E G H84434416OMIM:222765Rhizomelic chondrodysplasia punctata, type 2.58
HP:0001249HP:0001249Intellectual disability0GNPTAB CL E G H7915829670OMIM:252600Mucolipidosis III alpha/beta.240
HP:0001249HP:0001249Intellectual disability0GNPTG CL E G H8457223026OMIM:252605Mucolipidosis III gamma57
HP:0001249HP:0001249Intellectual disability0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID.69
HP:0001249HP:0001249Intellectual disability0GORAB CL E G H9234425676ORPHA:2078Geroderma osteodysplastica52
HP:0001249HP:0001249Intellectual disability0GORAB CL E G H9234425676OMIM:231070Geroderma osteodysplasticum.52
HP:0001249HP:0001249Intellectual disability0GOT2 CL E G H28064433OMIM:618721DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0001249HP:0001249Intellectual disability0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0001249HP:0001249Intellectual disability0GPAA1 CL E G H87334446OMIM:617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0001249HP:0001249Intellectual disability0GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0001249HP:0001249Intellectual disability0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional73
HP:0001249HP:0001249Intellectual disability0GPC4 CL E G H22394452OMIM:301026Keipert syndrome.
HP:0001249HP:0001249Intellectual disability0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional
HP:0001249HP:0001249Intellectual disability0GPC6 CL E G H100824454ORPHA:93329Autosomal recessive omodysplasiaHP:0040283 - Occasional99
HP:0001249HP:0001249Intellectual disability0GPHN CL E G H1024315465ORPHA:3197Hereditary hyperekplexiaHP:0040283 - Occasional18
HP:0001249HP:0001249Intellectual disability0GPI CL E G H28214458OMIM:613470Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency.12
HP:0001249HP:0001249Intellectual disability0GPR161 CL E G H2343223694ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional2
HP:0001249HP:0001249Intellectual disability0GPR88 CL E G H541124539OMIM:616939Chorea, childhood-onset, with psychomotor retardation.1
HP:0001249HP:0001249Intellectual disability0GPSM2 CL E G H2989929501OMIM:604213CHUDLEY-MCCULLOUGH SYNDROME; CMCS74
HP:0001249HP:0001249Intellectual disability0GPT2 CL E G H8470618062OMIM:616281Mental retardation, autosomal recessive 49.4
HP:0001249HP:0001249Intellectual disability0GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndromeHP:0040282 - Frequent4
HP:0001249HP:0001249Intellectual disability0GRIA1 CL E G H28904571OMIM:6199273
HP:0001249HP:0001249Intellectual disability0GRIA1 CL E G H28904571OMIM:6199313
HP:0001249HP:0001249Intellectual disability0GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0001249HP:0001249Intellectual disability0GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0001249HP:0001249Intellectual disability0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutations30
HP:0001249HP:0001249Intellectual disability0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities.
HP:0001249HP:0001249Intellectual disability0GRID2 CL E G H28954576OMIM:616204SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR1818
HP:0001249HP:0001249Intellectual disability0GRIK2 CL E G H28984580OMIM:611092Mental retardation, autosomal recessive 6.32
HP:0001249HP:0001249Intellectual disability0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0001249HP:0001249Intellectual disability0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyria108
HP:0001249HP:0001249Intellectual disability0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent108
HP:0001249HP:0001249Intellectual disability0GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.108
HP:0001249HP:0001249Intellectual disability0GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive108
HP:0001249HP:0001249Intellectual disability0GRIN2A CL E G H29034585ORPHA:725Continuous spikes and waves during sleepHP:0040282 - Frequent434
HP:0001249HP:0001249Intellectual disability0GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation434
HP:0001249HP:0001249Intellectual disability0GRIN2A CL E G H29034585OMIM:245570EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD434
HP:0001249HP:0001249Intellectual disability0GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsy434
HP:0001249HP:0001249Intellectual disability0GRIN2A CL E G H29034585ORPHA:163721Rolandic epilepsy-speech dyspraxia syndromeHP:0040282 - Frequent434
HP:0001249HP:0001249Intellectual disability0GRIN2B CL E G H29044586OMIM:616139Epileptic encephalopathy, early infantile, 27.274
HP:0001249HP:0001249Intellectual disability0GRIN2B CL E G H29044586OMIM:613970Mental retardation, autosomal dominant 6, with or without seizures.274
HP:0001249HP:0001249Intellectual disability0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent2
HP:0001249HP:0001249Intellectual disability0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndromeHP:0040283 - Occasional80
HP:0001249HP:0001249Intellectual disability0GRM1 CL E G H29114593ORPHA:324262Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiencyHP:0040281 - Very frequent8
HP:0001249HP:0001249Intellectual disability0GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0001249HP:0001249Intellectual disability0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent5
HP:0001249HP:0001249Intellectual disability0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0001249HP:0001249Intellectual disability0GSS CL E G H29374624OMIM:266130Glutathione synthetase deficiency.39
HP:0001249HP:0001249Intellectual disability0GTF2E2 CL E G H29614651OMIM:616943Trichothiodystrophy 6, nonphotosensitive2
HP:0001249HP:0001249Intellectual disability0GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive.3
HP:0001249HP:0001249Intellectual disability0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001249HP:0001249Intellectual disability0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001249HP:0001249Intellectual disability0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001249HP:0001249Intellectual disability0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0001249HP:0001249Intellectual disability0GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 2330
HP:0001249HP:0001249Intellectual disability0GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent36
HP:0001249HP:0001249Intellectual disability0GUCY2D CL E G H30004689ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional124
HP:0001249HP:0001249Intellectual disability0GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I.124
HP:0001249HP:0001249Intellectual disability0GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 402
HP:0001249HP:0001249Intellectual disability0GUSB CL E G H29904696ORPHA:584Mucopolysaccharidosis type 7HP:0040281 - Very frequent54
HP:0001249HP:0001249Intellectual disability0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII.54
HP:0001249HP:0001249Intellectual disability0H1-4 CL E G H30084718OMIM:617537Rahman syndrome.
HP:0001249HP:0001249Intellectual disability0H19 CL E G H2831204713ORPHA:2128Isolated hemihyperplasia4
HP:0001249HP:0001249Intellectual disability0H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040283 - Occasional4
HP:0001249HP:0001249Intellectual disability0H4C11 CL E G H83634785OMIM:619759TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0001249HP:0001249Intellectual disability0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001249HP:0001249Intellectual disability0H4C5 CL E G H83674790OMIM:619950
HP:0001249HP:0001249Intellectual disability0H4C9 CL E G H82944793OMIM:619951
HP:0001249HP:0001249Intellectual disability0HAAO CL E G H234984796OMIM:617660Vertebral, cardiac, renal, and limb defects syndrome 1HP:0040284 - Very rare2
HP:0001249HP:0001249Intellectual disability0HACE1 CL E G H5753121033OMIM:616756Spastic paraplegia and psychomotor retardation with or without seizures.10
HP:0001249HP:0001249Intellectual disability0HACE1 CL E G H5753121033ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndromeHP:0040282 - Frequent10
HP:0001249HP:0001249Intellectual disability0HADH CL E G H30334799OMIM:609975Hyperinsulinemic hypoglycemia, familial, 4.41
HP:0001249HP:0001249Intellectual disability0HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional99
HP:0001249HP:0001249Intellectual disability0HAX1 CL E G H1045616915OMIM:610738NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN332
HP:0001249HP:0001249Intellectual disability0HBA1 CL E G H30394823ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040281 - Very frequent200
HP:0001249HP:0001249Intellectual disability0HBA2 CL E G H30404824ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040281 - Very frequent88
HP:0001249HP:0001249Intellectual disability0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional11
HP:0001249HP:0001249Intellectual disability0HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 711
HP:0001249HP:0001249Intellectual disability0HCFC1 CL E G H30544839OMIM:309541Methylmalonic acidemia and homocysteinemia, Cblx type.100
HP:0001249HP:0001249Intellectual disability0HCN1 CL E G H3489804845OMIM:615871Epileptic encephalopathy, early infantile, 24.54
HP:0001249HP:0001249Intellectual disability0HCN1 CL E G H3489804845OMIM:618482Generalized epilepsy with febrile seizures plus, type 1054
HP:0001249HP:0001249Intellectual disability0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent54
HP:0001249HP:0001249Intellectual disability0HCN4 CL E G H1002116882OMIM:619521EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18185
HP:0001249HP:0001249Intellectual disability0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040281 - Very frequent33
HP:0001249HP:0001249Intellectual disability0HDAC4 CL E G H975914063OMIM:600430Chromosome 2q37 deletion syndrome.33
HP:0001249HP:0001249Intellectual disability0HDAC6 CL E G H1001314064OMIM:300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaHP:0040283 - Occasional2
HP:0001249HP:0001249Intellectual disability0HDAC6 CL E G H1001314064ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe type2
HP:0001249HP:0001249Intellectual disability0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent37
HP:0001249HP:0001249Intellectual disability0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 5.37
HP:0001249HP:0001249Intellectual disability0HDAC8 CL E G H5586913315ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent37
HP:0001249HP:0001249Intellectual disability0HEATR3 CL E G H5502726087OMIM:620072
HP:0001249HP:0001249Intellectual disability0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0001249HP:0001249Intellectual disability0HELLS CL E G H30704861ORPHA:2268ICF syndromeHP:0040282 - Frequent6
HP:0001249HP:0001249Intellectual disability0HELLS CL E G H30704861OMIM:616911Immunodeficiency-centromeric instability-facial anomalies syndrome 46
HP:0001249HP:0001249Intellectual disability0HEPACAM CL E G H22029626361OMIM:604004Megalencephalic leukoencephalopathy with subcortical cysts 182
HP:0001249HP:0001249Intellectual disability0HEPACAM CL E G H22029626361OMIM:613925Megalencephalic leukoencephalopathy with subcortical cysts 2A.82
HP:0001249HP:0001249Intellectual disability0HEPACAM CL E G H22029626361OMIM:613926Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation82
HP:0001249HP:0001249Intellectual disability0HERC1 CL E G H89254867OMIM:617011Macrocephaly, dysmorphic facies, and psychomotor retardation.16
HP:0001249HP:0001249Intellectual disability0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndrome16
HP:0001249HP:0001249Intellectual disability0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0001249HP:0001249Intellectual disability0HES7 CL E G H8466715977ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional10
HP:0001249HP:0001249Intellectual disability0HESX1 CL E G H88204877ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional21
HP:0001249HP:0001249Intellectual disability0HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional21
HP:0001249HP:0001249Intellectual disability0HGSNAT CL E G H13805026527OMIM:252930Mucopolysaccharidosis type IIIC.86
HP:0001249HP:0001249Intellectual disability0HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent86
HP:0001249HP:0001249Intellectual disability0HHAT CL E G H5573318270ORPHA:1422Chondrodysplasia-disorder of sex development syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0001249HP:0001249Intellectual disability0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0001249HP:0001249Intellectual disability0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 43.13
HP:0001249HP:0001249Intellectual disability0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0001249HP:0001249Intellectual disability0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndrome2
HP:0001249HP:0001249Intellectual disability0HMGB3 CL E G H31495004OMIM:300915Microphthalmia, syndromic 13.2
HP:0001249HP:0001249Intellectual disability0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduria35
HP:0001249HP:0001249Intellectual disability0HNF1B CL E G H692811630ORPHA:26126517q12 microdeletion syndromeHP:0040283 - Occasional90
HP:0001249HP:0001249Intellectual disability0HNF1B CL E G H692811630ORPHA:93111HNF1B-related autosomal dominant tubulointerstitial kidney diseaseHP:0040283 - Occasional90
HP:0001249HP:0001249Intellectual disability0HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiencyHP:0040282 - Frequent138
HP:0001249HP:0001249Intellectual disability0HNMT CL E G H31765028OMIM:616739Mental retardation, autosomal recessive 513
HP:0001249HP:0001249Intellectual disability0HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional31
HP:0001249HP:0001249Intellectual disability0HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional5
HP:0001249HP:0001249Intellectual disability0HNRNPH1 CL E G H31875041OMIM:620083
HP:0001249HP:0001249Intellectual disability0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0001249HP:0001249Intellectual disability0HNRNPK CL E G H31905044OMIM:616580Au-Kline syndrome.8
HP:0001249HP:0001249Intellectual disability0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0001249HP:0001249Intellectual disability0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0001249HP:0001249Intellectual disability0HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndrome39
HP:0001249HP:0001249Intellectual disability0HNRNPU CL E G H31925048OMIM:617391Epileptic encephalopathy, early infantile, 54.39
HP:0001249HP:0001249Intellectual disability0HPD CL E G H32425147OMIM:276710Tyrosinemia, type III23
HP:0001249HP:0001249Intellectual disability0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0001249HP:0001249Intellectual disability0HPRT1 CL E G H32515157ORPHA:79233Hypoxanthine guanine phosphoribosyltransferase partial deficiencyHP:0040282 - Frequent76
HP:0001249HP:0001249Intellectual disability0HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome.76
HP:0001249HP:0001249Intellectual disability0HPRT1 CL E G H32515157ORPHA:510Lesch-Nyhan syndrome76
HP:0001249HP:0001249Intellectual disability0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0001249HP:0001249Intellectual disability0HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040282 - Frequent113
HP:0001249HP:0001249Intellectual disability0HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent113
HP:0001249HP:0001249Intellectual disability0HRAS CL E G H32655173OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.113
HP:0001249HP:0001249Intellectual disability0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0001249HP:0001249Intellectual disability0HSD17B10 CL E G H30284800ORPHA:85295HSD10 disease, atypical typeHP:0040281 - Very frequent19
HP:0001249HP:0001249Intellectual disability0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile type19
HP:0001249HP:0001249Intellectual disability0HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease.19
HP:0001249HP:0001249Intellectual disability0HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 198
HP:0001249HP:0001249Intellectual disability0HSPD1 CL E G H33295261OMIM:612233Leukodystrophy, hypomyelinating, 446
HP:0001249HP:0001249Intellectual disability0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent345
HP:0001249HP:0001249Intellectual disability0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040281 - Very frequent345
HP:0001249HP:0001249Intellectual disability0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0001249HP:0001249Intellectual disability0HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome12
HP:0001249HP:0001249Intellectual disability0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0001249HP:0001249Intellectual disability0HYCC1 CL E G H8466824587ORPHA:85163Hypomyelination-congenital cataract syndrome
HP:0001249HP:0001249Intellectual disability0HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5.
HP:0001249HP:0001249Intellectual disability0HYLS1 CL E G H21984426558ORPHA:475Joubert syndromeHP:0040281 - Very frequent31
HP:0001249HP:0001249Intellectual disability0IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0IARS1 CL E G H33765330OMIM:617093Growth retardation, impaired intellectual development, hypotonia, and hepatopathy.
HP:0001249HP:0001249Intellectual disability0IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0001249HP:0001249Intellectual disability0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II86
HP:0001249HP:0001249Intellectual disability0IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040281 - Very frequent115
HP:0001249HP:0001249Intellectual disability0IDUA CL E G H34255391OMIM:607014Hurler syndrome.115
HP:0001249HP:0001249Intellectual disability0IER3IP1 CL E G H5112418550OMIM:614231Microcephaly, epilepsy, and diabetes syndrome.6
HP:0001249HP:0001249Intellectual disability0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndrome28
HP:0001249HP:0001249Intellectual disability0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 7.28
HP:0001249HP:0001249Intellectual disability0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0001249HP:0001249Intellectual disability0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0001249HP:0001249Intellectual disability0IFT140 CL E G H974229077ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional148
HP:0001249HP:0001249Intellectual disability0IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent148
HP:0001249HP:0001249Intellectual disability0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0001249HP:0001249Intellectual disability0IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent48
HP:0001249HP:0001249Intellectual disability0IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0001249HP:0001249Intellectual disability0IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0001249HP:0001249Intellectual disability0IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactyly.48
HP:0001249HP:0001249Intellectual disability0IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent1
HP:0001249HP:0001249Intellectual disability0IFT27 CL E G H1102018626OMIM:615996Bardet-Biedl syndrome 19.1
HP:0001249HP:0001249Intellectual disability0IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent3
HP:0001249HP:0001249Intellectual disability0IFT74 CL E G H8017321424OMIM:617119BARDET-BIEDL SYNDROME 20; BBS203
HP:0001249HP:0001249Intellectual disability0IFT74 CL E G H8017321424OMIM:619582JOUBERT SYNDROME 40; JBTS403
HP:0001249HP:0001249Intellectual disability0IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0001249HP:0001249Intellectual disability0IGBP1 CL E G H34765461ORPHA:52055Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndromeHP:0040281 - Very frequent5
HP:0001249HP:0001249Intellectual disability0IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0001249HP:0001249Intellectual disability0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040281 - Very frequent91
HP:0001249HP:0001249Intellectual disability0IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency.91
HP:0001249HP:0001249Intellectual disability0IGF1R CL E G H34805465ORPHA:73273Growth delay due to insulin-like growth factor I resistanceHP:0040282 - Frequent268
HP:0001249HP:0001249Intellectual disability0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0001249HP:0001249Intellectual disability0IGF2 CL E G H34815466ORPHA:2128Isolated hemihyperplasia9
HP:0001249HP:0001249Intellectual disability0IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040283 - Occasional9
HP:0001249HP:0001249Intellectual disability0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.52
HP:0001249HP:0001249Intellectual disability0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040283 - Occasional52
HP:0001249HP:0001249Intellectual disability0IL1RAPL1 CL E G H111415996OMIM:300143Mental retardation, X-linked 2142
HP:0001249HP:0001249Intellectual disability0IMPA1 CL E G H36126050OMIM:617323Mental retardation, autosomal recessive 59.1
HP:0001249HP:0001249Intellectual disability0IMPDH1 CL E G H36146052ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional52
HP:0001249HP:0001249Intellectual disability0IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent52
HP:0001249HP:0001249Intellectual disability0IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0001249HP:0001249Intellectual disability0IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent120
HP:0001249HP:0001249Intellectual disability0INPP5E CL E G H5662321474ORPHA:475Joubert syndromeHP:0040281 - Very frequent111
HP:0001249HP:0001249Intellectual disability0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0001249HP:0001249Intellectual disability0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defect111
HP:0001249HP:0001249Intellectual disability0INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent111
HP:0001249HP:0001249Intellectual disability0INPP5E CL E G H5662321474OMIM:610156Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome111
HP:0001249HP:0001249Intellectual disability0INPP5E CL E G H5662321474ORPHA:75858MORM syndrome111
HP:0001249HP:0001249Intellectual disability0INPP5K CL E G H5176333882ORPHA:559Marinesco-Sjögren syndromeHP:0040281 - Very frequent7
HP:0001249HP:0001249Intellectual disability0INPP5K CL E G H5176333882OMIM:617404Muscular dystrophy, congenital, with cataracts and intellectual disability.7
HP:0001249HP:0001249Intellectual disability0INS CL E G H36306081ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent62
HP:0001249HP:0001249Intellectual disability0INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040282 - Frequent229
HP:0001249HP:0001249Intellectual disability0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040282 - Frequent229
HP:0001249HP:0001249Intellectual disability0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0001249HP:0001249Intellectual disability0IQCB1 CL E G H965728949ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional61
HP:0001249HP:0001249Intellectual disability0IQSEC1 CL E G H992229112OMIM:618687INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0001249HP:0001249Intellectual disability0IQSEC2 CL E G H2309629059OMIM:309530Mental retardation, X-linked 1119
HP:0001249HP:0001249Intellectual disability0IQSEC2 CL E G H2309629059ORPHA:217377Microduplication Xp11.22p11.23 syndromeHP:0040281 - Very frequent119
HP:0001249HP:0001249Intellectual disability0IQSEC2 CL E G H2309629059ORPHA:397933Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome119
HP:0001249HP:0001249Intellectual disability0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0001249HP:0001249Intellectual disability0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures.
HP:0001249HP:0001249Intellectual disability0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0001249HP:0001249Intellectual disability0ITGA7 CL E G H36796143OMIM:613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency.127
HP:0001249HP:0001249Intellectual disability0ITGB6 CL E G H36946161ORPHA:2850Alopecia-intellectual disability syndromeHP:0040281 - Very frequent8
HP:0001249HP:0001249Intellectual disability0ITPR1 CL E G H37086180ORPHA:1065Aniridia-cerebellar ataxia-intellectual disability syndromeHP:0040281 - Very frequent177
HP:0001249HP:0001249Intellectual disability0ITPR1 CL E G H37086180OMIM:206700Gillespie syndrome.177
HP:0001249HP:0001249Intellectual disability0ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0001249HP:0001249Intellectual disability0IYD CL E G H38943421071ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional130
HP:0001249HP:0001249Intellectual disability0IYD CL E G H38943421071OMIM:274800Thyroid hormonogenesis, genetic defect in, 4.130
HP:0001249HP:0001249Intellectual disability0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0001249HP:0001249Intellectual disability0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0001249HP:0001249Intellectual disability0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0001249HP:0001249Intellectual disability0JRK CL E G H86296199ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional
HP:0001249HP:0001249Intellectual disability0KANK1 CL E G H2318919309OMIM:612900CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ226
HP:0001249HP:0001249Intellectual disability0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0001249HP:0001249Intellectual disability0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome.283
HP:0001249HP:0001249Intellectual disability0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0001249HP:0001249Intellectual disability0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0001249HP:0001249Intellectual disability0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0001249HP:0001249Intellectual disability0KAT6A CL E G H799413013ORPHA:457193Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome34
HP:0001249HP:0001249Intellectual disability0KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS typeHP:0040281 - Very frequent141
HP:0001249HP:0001249Intellectual disability0KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndromeHP:0040281 - Very frequent141
HP:0001249HP:0001249Intellectual disability0KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome141
HP:0001249HP:0001249Intellectual disability0KAT6B CL E G H2352217582OMIM:603736Ohdo syndrome, sbbys variant.141
HP:0001249HP:0001249Intellectual disability0KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040281 - Very frequent10
HP:0001249HP:0001249Intellectual disability0KATNIP CL E G H2324729068ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent145
HP:0001249HP:0001249Intellectual disability0KCNA2 CL E G H37376220OMIM:616366Epileptic encephalopathy, early infantile, 32.13
HP:0001249HP:0001249Intellectual disability0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent13
HP:0001249HP:0001249Intellectual disability0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent1
HP:0001249HP:0001249Intellectual disability0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent65
HP:0001249HP:0001249Intellectual disability0KCNC2 CL E G H37476234OMIM:619913
HP:0001249HP:0001249Intellectual disability0KCNC3 CL E G H37486235OMIM:605259Spinocerebellar ataxia 13.17
HP:0001249HP:0001249Intellectual disability0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 1317
HP:0001249HP:0001249Intellectual disability0KCNE5 CL E G H236306241ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome5
HP:0001249HP:0001249Intellectual disability0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndrome13
HP:0001249HP:0001249Intellectual disability0KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome13
HP:0001249HP:0001249Intellectual disability0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent13
HP:0001249HP:0001249Intellectual disability0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 113
HP:0001249HP:0001249Intellectual disability0KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 2.51
HP:0001249HP:0001249Intellectual disability0KCNJ10 CL E G H37666256ORPHA:199343EAST syndromeHP:0040281 - Very frequent121
HP:0001249HP:0001249Intellectual disability0KCNJ10 CL E G H37666256OMIM:274600Pendred syndrome.121
HP:0001249HP:0001249Intellectual disability0KCNJ10 CL E G H37666256ORPHA:705Pendred syndromeHP:0040283 - Occasional121
HP:0001249HP:0001249Intellectual disability0KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance.121
HP:0001249HP:0001249Intellectual disability0KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0001249HP:0001249Intellectual disability0KCNJ11 CL E G H37676257ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent127
HP:0001249HP:0001249Intellectual disability0KCNJ13 CL E G H37696259ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional42
HP:0001249HP:0001249Intellectual disability0KCNJ6 CL E G H37636267OMIM:614098Keppen-Lubinsky syndrome3
HP:0001249HP:0001249Intellectual disability0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040281 - Very frequent3
HP:0001249HP:0001249Intellectual disability0KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu type23
HP:0001249HP:0001249Intellectual disability0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0001249HP:0001249Intellectual disability0KCNK9 CL E G H513056283OMIM:612292BIRK-BAREL SYNDROME4
HP:0001249HP:0001249Intellectual disability0KCNMA1 CL E G H37786284ORPHA:79137Generalized epilepsy-paroxysmal dyskinesia syndrome114
HP:0001249HP:0001249Intellectual disability0KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0001249HP:0001249Intellectual disability0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent7
HP:0001249HP:0001249Intellectual disability0KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0001249HP:0001249Intellectual disability0KCNQ1OT1 CL E G H109846295ORPHA:2128Isolated hemihyperplasia1
HP:0001249HP:0001249Intellectual disability0KCNQ2 CL E G H37856296OMIM:613720Epileptic encephalopathy, early infantile, 7.528
HP:0001249HP:0001249Intellectual disability0KCNQ2 CL E G H37856296ORPHA:439218KCNQ2-related epileptic encephalopathyHP:0040280 - Obligate528
HP:0001249HP:0001249Intellectual disability0KCNQ5 CL E G H564796299OMIM:617601Mental retardation, autosomal dominant 46.5
HP:0001249HP:0001249Intellectual disability0KCNT1 CL E G H5758218865ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy321
HP:0001249HP:0001249Intellectual disability0KCNT1 CL E G H5758218865OMIM:615005Epilepsy, nocturnal frontal lobe, 5HP:0040283 - Occasional321
HP:0001249HP:0001249Intellectual disability0KCTD7 CL E G H15488121957OMIM:611726Epilepsy, progressive myoclonic 3, with or without intracellular inclusions106
HP:0001249HP:0001249Intellectual disability0KCTD7 CL E G H15488121957ORPHA:263516Progressive myoclonic epilepsy type 3HP:0040282 - Frequent106
HP:0001249HP:0001249Intellectual disability0KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0001249HP:0001249Intellectual disability0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0001249HP:0001249Intellectual disability0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 652
HP:0001249HP:0001249Intellectual disability0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0001249HP:0001249Intellectual disability0KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutation81
HP:0001249HP:0001249Intellectual disability0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0001249HP:0001249Intellectual disability0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0001249HP:0001249Intellectual disability0KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilisHP:0040283 - Occasional4
HP:0001249HP:0001249Intellectual disability0KIAA0586 CL E G H978619960ORPHA:475Joubert syndromeHP:0040281 - Very frequent24
HP:0001249HP:0001249Intellectual disability0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent4
HP:0001249HP:0001249Intellectual disability0KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0001249HP:0001249Intellectual disability0KIDINS220 CL E G H5749829508ORPHA:521390Spastic paraplegia-intellectual disability-nystagmus-obesity syndromeHP:0040282 - Frequent4
HP:0001249HP:0001249Intellectual disability0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation46
HP:0001249HP:0001249Intellectual disability0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040282 - Frequent46
HP:0001249HP:0001249Intellectual disability0KIF14 CL E G H992819181ORPHA:2512Autosomal recessive primary microcephaly9
HP:0001249HP:0001249Intellectual disability0KIF14 CL E G H992819181OMIM:617914Microcephaly 20, primary, autosomal recessive.9
HP:0001249HP:0001249Intellectual disability0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0KIF1A CL E G H547888OMIM:614255Mental retardation, autosomal dominant 9276
HP:0001249HP:0001249Intellectual disability0KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC276
HP:0001249HP:0001249Intellectual disability0KIF1A CL E G H547888ORPHA:2836PEHO syndrome276
HP:0001249HP:0001249Intellectual disability0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 5838
HP:0001249HP:0001249Intellectual disability0KIF4A CL E G H2413713339OMIM:300923MENTAL RETARDATION, X-LINKED 100; MRX1005
HP:0001249HP:0001249Intellectual disability0KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 1093
HP:0001249HP:0001249Intellectual disability0KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0001249HP:0001249Intellectual disability0KIF7 CL E G H37465430497ORPHA:36Acrocallosal syndrome167
HP:0001249HP:0001249Intellectual disability0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0001249HP:0001249Intellectual disability0KIF7 CL E G H37465430497ORPHA:166024Multiple epiphyseal dysplasia, Al-Gazali typeHP:0040281 - Very frequent167
HP:0001249HP:0001249Intellectual disability0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent167
HP:0001249HP:0001249Intellectual disability0KIFBP CL E G H2612823419ORPHA:66629Goldberg-Shprintzen megacolon syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome.
HP:0001249HP:0001249Intellectual disability0KIT CL E G H38156342ORPHA:2884PiebaldismHP:0040283 - Occasional327
HP:0001249HP:0001249Intellectual disability0KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0001249HP:0001249Intellectual disability0KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0001249HP:0001249Intellectual disability0KLHL15 CL E G H8031129347OMIM:300982MENTAL RETARDATION, X-LINKED 103; MRX1033
HP:0001249HP:0001249Intellectual disability0KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent42
HP:0001249HP:0001249Intellectual disability0KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040282 - Frequent1
HP:0001249HP:0001249Intellectual disability0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome.91
HP:0001249HP:0001249Intellectual disability0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040283 - Occasional91
HP:0001249HP:0001249Intellectual disability0KMT2B CL E G H975715840OMIM:61993411
HP:0001249HP:0001249Intellectual disability0KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0001249HP:0001249Intellectual disability0KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset11
HP:0001249HP:0001249Intellectual disability0KMT2C CL E G H5850813726OMIM:617768Kleefstra syndrome 299
HP:0001249HP:0001249Intellectual disability0KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040281 - Very frequent99
HP:0001249HP:0001249Intellectual disability0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0001249HP:0001249Intellectual disability0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 51.2
HP:0001249HP:0001249Intellectual disability0KNL1 CL E G H5708224054ORPHA:2512Autosomal recessive primary microcephaly112
HP:0001249HP:0001249Intellectual disability0KNL1 CL E G H5708224054OMIM:604321Microcephaly 4, primary, autosomal recessive.112
HP:0001249HP:0001249Intellectual disability0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0001249HP:0001249Intellectual disability0KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndromeHP:0040282 - Frequent13
HP:0001249HP:0001249Intellectual disability0KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 41.13
HP:0001249HP:0001249Intellectual disability0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent196
HP:0001249HP:0001249Intellectual disability0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040281 - Very frequent196
HP:0001249HP:0001249Intellectual disability0KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent196
HP:0001249HP:0001249Intellectual disability0KRAS CL E G H38456407OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.196
HP:0001249HP:0001249Intellectual disability0KRT81 CL E G H38876458ORPHA:573MonilethrixHP:0040283 - Occasional3
HP:0001249HP:0001249Intellectual disability0KRT83 CL E G H38896460ORPHA:573MonilethrixHP:0040283 - Occasional65
HP:0001249HP:0001249Intellectual disability0KRT86 CL E G H38926463ORPHA:573MonilethrixHP:0040283 - Occasional10
HP:0001249HP:0001249Intellectual disability0KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndromeHP:0040283 - Occasional3
HP:0001249HP:0001249Intellectual disability0KYNU CL E G H89426469ORPHA:79155HydroxykynureninuriaHP:0040282 - Frequent5
HP:0001249HP:0001249Intellectual disability0L1CAM CL E G H38976470OMIM:304100Corpus callosum, partial agenesis of, X-linked.134
HP:0001249HP:0001249Intellectual disability0L1CAM CL E G H38976470OMIM:307000Hydrocephalus due to congenital stenosis of aqueduct of sylvius.134
HP:0001249HP:0001249Intellectual disability0L1CAM CL E G H38976470ORPHA:2182Hydrocephalus with stenosis of the aqueduct of Sylvius134
HP:0001249HP:0001249Intellectual disability0L1CAM CL E G H38976470ORPHA:2466MASA syndromeHP:0040281 - Very frequent134
HP:0001249HP:0001249Intellectual disability0L1CAM CL E G H38976470OMIM:303350MASA syndrome.134
HP:0001249HP:0001249Intellectual disability0L1CAM CL E G H38976470ORPHA:1497X-linked complicated corpus callosum dysgenesisHP:0040281 - Very frequent134
HP:0001249HP:0001249Intellectual disability0L1CAM CL E G H38976470ORPHA:306617X-linked complicated spastic paraplegia type 1134
HP:0001249HP:0001249Intellectual disability0L2HGDH CL E G H7994420499OMIM:236792L-2-Hydroxyglutaric aciduria34
HP:0001249HP:0001249Intellectual disability0L2HGDH CL E G H7994420499ORPHA:79314L-2-hydroxyglutaric aciduria34
HP:0001249HP:0001249Intellectual disability0LAGE3 CL E G H827026058OMIM:301006Galloway-Mowat syndrome 2, X-linked.
HP:0001249HP:0001249Intellectual disability0LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome35
HP:0001249HP:0001249Intellectual disability0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040282 - Frequent411
HP:0001249HP:0001249Intellectual disability0LAMA2 CL E G H39086482OMIM:607855Muscular dystrophy, congenital, merosin deficient or partially deficientHP:0040283 - Occasional411
HP:0001249HP:0001249Intellectual disability0LAMB1 CL E G H39126486OMIM:615191Lissencephaly 571
HP:0001249HP:0001249Intellectual disability0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional92
HP:0001249HP:0001249Intellectual disability0LAMP2 CL E G H39206501OMIM:300257Danon disease211
HP:0001249HP:0001249Intellectual disability0LAMP2 CL E G H39206501ORPHA:34587Glycogen storage disease due to LAMP-2 deficiencyHP:0040281 - Very frequent211
HP:0001249HP:0001249Intellectual disability0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040281 - Very frequent136
HP:0001249HP:0001249Intellectual disability0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0001249HP:0001249Intellectual disability0LARGE1 CL E G H92156511OMIM:613154MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6.136
HP:0001249HP:0001249Intellectual disability0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6136
HP:0001249HP:0001249Intellectual disability0LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent136
HP:0001249HP:0001249Intellectual disability0LARP7 CL E G H5157424912ORPHA:319671Alazami syndrome16
HP:0001249HP:0001249Intellectual disability0LARP7 CL E G H5157424912OMIM:615071Alazami syndrome16
HP:0001249HP:0001249Intellectual disability0LAS1L CL E G H8188725726ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent8
HP:0001249HP:0001249Intellectual disability0LAS1L CL E G H8188725726OMIM:309585WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS8
HP:0001249HP:0001249Intellectual disability0LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0001249HP:0001249Intellectual disability0LCA5 CL E G H16769131923ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional70
HP:0001249HP:0001249Intellectual disability0LDHD CL E G H19725719708OMIM:245450LACTIC ACIDURIA DUE TO D-LACTIC ACID.
HP:0001249HP:0001249Intellectual disability0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndrome68
HP:0001249HP:0001249Intellectual disability0LETM1 CL E G H39546556OMIM:6200892
HP:0001249HP:0001249Intellectual disability0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndrome2
HP:0001249HP:0001249Intellectual disability0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001249HP:0001249Intellectual disability0LFNG CL E G H39556560ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional13
HP:0001249HP:0001249Intellectual disability0LGI3 CL E G H20319018711OMIM:620007
HP:0001249HP:0001249Intellectual disability0LHX1 CL E G H39756593ORPHA:26126517q12 microdeletion syndromeHP:0040283 - Occasional
HP:0001249HP:0001249Intellectual disability0LHX3 CL E G H80226595OMIM:221750Deafness, sensorineural, with pituitary dwarfism.51
HP:0001249HP:0001249Intellectual disability0LHX4 CL E G H8988421734ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional43
HP:0001249HP:0001249Intellectual disability0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional1
HP:0001249HP:0001249Intellectual disability0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040281 - Very frequent88
HP:0001249HP:0001249Intellectual disability0LIG4 CL E G H39816601ORPHA:99812LIG4 syndromeHP:0040282 - Frequent88
HP:0001249HP:0001249Intellectual disability0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0LINGO1 CL E G H8489421205OMIM:618103Mental retardation, autosomal recessive 64.
HP:0001249HP:0001249Intellectual disability0LINS1 CL E G H5518030922OMIM:614340Mental retardation, autosomal recessive 27.25
HP:0001249HP:0001249Intellectual disability0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophy21
HP:0001249HP:0001249Intellectual disability0LMAN2L CL E G H8156219263OMIM:6178631
HP:0001249HP:0001249Intellectual disability0LMAN2L CL E G H8156219263OMIM:616887Mental retardation, autosomal recessive 521
HP:0001249HP:0001249Intellectual disability0LMBR1 CL E G H6432713243ORPHA:2378Laurin-Sandrow syndromeHP:0040283 - Occasional106
HP:0001249HP:0001249Intellectual disability0LMBRD1 CL E G H5578823038ORPHA:79284Methylmalonic acidemia with homocystinuria type cblFHP:0040282 - Frequent46
HP:0001249HP:0001249Intellectual disability0LMNA CL E G H40006636OMIM:212112Malouf syndromeHP:0040283 - Occasional645
HP:0001249HP:0001249Intellectual disability0LMNB2 CL E G H848236638ORPHA:79087Acquired partial lipodystrophyHP:0040282 - Frequent11
HP:0001249HP:0001249Intellectual disability0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndrome165
HP:0001249HP:0001249Intellectual disability0LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0001249HP:0001249Intellectual disability0LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiency8
HP:0001249HP:0001249Intellectual disability0LRAT CL E G H92276685ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional62
HP:0001249HP:0001249Intellectual disability0LRAT CL E G H92276685ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent62
HP:0001249HP:0001249Intellectual disability0LRP2 CL E G H40366694ORPHA:2143Donnai-Barrow syndromeHP:0040281 - Very frequent289
HP:0001249HP:0001249Intellectual disability0LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathy125
HP:0001249HP:0001249Intellectual disability0LRP5 CL E G H40416697OMIM:259770Osteoporosis-Pseudoglioma syndrome125
HP:0001249HP:0001249Intellectual disability0LRRK1 CL E G H7970518608OMIM:615198Osteosclerotic metaphyseal dysplasiaHP:0040283 - Occasional1
HP:0001249HP:0001249Intellectual disability0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndrome
HP:0001249HP:0001249Intellectual disability0LSS CL E G H40476708ORPHA:2850Alopecia-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0001249HP:0001249Intellectual disability0LSS CL E G H40476708OMIM:618840ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR42
HP:0001249HP:0001249Intellectual disability0LTBP1 CL E G H40526714ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040284 - Very rare
HP:0001249HP:0001249Intellectual disability0LTBP2 CL E G H40536715ORPHA:3449Weill-Marchesani syndrome123
HP:0001249HP:0001249Intellectual disability0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 8.10
HP:0001249HP:0001249Intellectual disability0LYST CL E G H11301968ORPHA:352723Attenuated Chédiak-Higashi syndromeHP:0040281 - Very frequent239
HP:0001249HP:0001249Intellectual disability0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040283 - Occasional239
HP:0001249HP:0001249Intellectual disability0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0001249HP:0001249Intellectual disability0LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent4
HP:0001249HP:0001249Intellectual disability0LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0001249HP:0001249Intellectual disability0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0001249HP:0001249Intellectual disability0MAB21L2 CL E G H105866758OMIM:615877Microphthalmia/coloboma and skeletal dysplasia syndrome5
HP:0001249HP:0001249Intellectual disability0MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformation2
HP:0001249HP:0001249Intellectual disability0MACF1 CL E G H2349913664ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome2
HP:0001249HP:0001249Intellectual disability0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040282 - Frequent1
HP:0001249HP:0001249Intellectual disability0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0001249HP:0001249Intellectual disability0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040281 - Very frequent21
HP:0001249HP:0001249Intellectual disability0MAF CL E G H40946776OMIM:601088Ayme-Gripp syndrome21
HP:0001249HP:0001249Intellectual disability0MAG CL E G H40996783ORPHA:459056Autosomal recessive spastic paraplegia type 75HP:0040281 - Very frequent4
HP:0001249HP:0001249Intellectual disability0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040281 - Very frequent63
HP:0001249HP:0001249Intellectual disability0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1563
HP:0001249HP:0001249Intellectual disability0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 163
HP:0001249HP:0001249Intellectual disability0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 263
HP:0001249HP:0001249Intellectual disability0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0001249HP:0001249Intellectual disability0MAGT1 CL E G H8406128880OMIM:301031CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC17
HP:0001249HP:0001249Intellectual disability0MAK CL E G H41176816ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent53
HP:0001249HP:0001249Intellectual disability0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040281 - Very frequent93
HP:0001249HP:0001249Intellectual disability0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0001249HP:0001249Intellectual disability0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136
HP:0001249HP:0001249Intellectual disability0MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult form136
HP:0001249HP:0001249Intellectual disability0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040281 - Very frequent136
HP:0001249HP:0001249Intellectual disability0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0001249HP:0001249Intellectual disability0MANBA CL E G H41266831ORPHA:118Beta-mannosidosisHP:0040281 - Very frequent55
HP:0001249HP:0001249Intellectual disability0MANBA CL E G H41266831OMIM:248510MANNOSIDOSIS, BETA A, LYSOSOMAL.55
HP:0001249HP:0001249Intellectual disability0MAOA CL E G H41286833OMIM:300615Brunner syndrome22
HP:0001249HP:0001249Intellectual disability0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0001249HP:0001249Intellectual disability0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent134
HP:0001249HP:0001249Intellectual disability0MAP2K1 CL E G H56046840OMIM:615279Cardiofaciocutaneous syndrome 3134
HP:0001249HP:0001249Intellectual disability0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0001249HP:0001249Intellectual disability0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent178
HP:0001249HP:0001249Intellectual disability0MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasiaHP:0040283 - Occasional11
HP:0001249HP:0001249Intellectual disability0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 211
HP:0001249HP:0001249Intellectual disability0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040281 - Very frequent2
HP:0001249HP:0001249Intellectual disability0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0001249HP:0001249Intellectual disability0MAPK10 CL E G H56026872ORPHA:2382Lennox-Gastaut syndromeHP:0040281 - Very frequent61
HP:0001249HP:0001249Intellectual disability0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0001249HP:0001249Intellectual disability0MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional4
HP:0001249HP:0001249Intellectual disability0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 2.4
HP:0001249HP:0001249Intellectual disability0MARCHF6 CL E G H1029930550ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040283 - Occasional
HP:0001249HP:0001249Intellectual disability0MARS1 CL E G H41416898ORPHA:401835Autosomal recessive spastic paraplegia type 70
HP:0001249HP:0001249Intellectual disability0MARS1 CL E G H41416898OMIM:619692TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0001249HP:0001249Intellectual disability0MARS2 CL E G H9293525133ORPHA:314603Autosomal recessive spastic ataxia with leukoencephalopathy25
HP:0001249HP:0001249Intellectual disability0MASP1 CL E G H56486901ORPHA:2938433MC syndromeHP:0040282 - Frequent21
HP:0001249HP:0001249Intellectual disability0MASP1 CL E G H56486901OMIM:2579203mc syndrome 121
HP:0001249HP:0001249Intellectual disability0MAT1A CL E G H41436903OMIM:250850METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCYHP:0040283 - Occasional82
HP:0001249HP:0001249Intellectual disability0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndrome252
HP:0001249HP:0001249Intellectual disability0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0001249HP:0001249Intellectual disability0MBOAT7 CL E G H7914315505OMIM:617188Mental retardation, autosomal recessive 57.5
HP:0001249HP:0001249Intellectual disability0MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndrome22
HP:0001249HP:0001249Intellectual disability0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040281 - Very frequent22
HP:0001249HP:0001249Intellectual disability0MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome.22
HP:0001249HP:0001249Intellectual disability0MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare94
HP:0001249HP:0001249Intellectual disability0MCCC1 CL E G H569226936OMIM:2102003-Methylcrotonyl-CoA carboxylase 1 deficiency.81
HP:0001249HP:0001249Intellectual disability0MCCC2 CL E G H640876937OMIM:2102103-Methylcrotonyl-CoA carboxylase 2 deficiency.77
HP:0001249HP:0001249Intellectual disability0MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3
HP:0001249HP:0001249Intellectual disability0MCM7 CL E G H41766950ORPHA:2512Autosomal recessive primary microcephaly
HP:0001249HP:0001249Intellectual disability0MCOLN1 CL E G H5719213356OMIM:252650Mucolipidosis IV78
HP:0001249HP:0001249Intellectual disability0MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IVHP:0040281 - Very frequent78
HP:0001249HP:0001249Intellectual disability0MCPH1 CL E G H796486954ORPHA:2512Autosomal recessive primary microcephaly155
HP:0001249HP:0001249Intellectual disability0MCPH1 CL E G H796486954OMIM:251200Microcephaly, primary autosomal recessive, 1.155
HP:0001249HP:0001249Intellectual disability0MECOM CL E G H21223498OMIM:616738RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT24
HP:0001249HP:0001249Intellectual disability0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent950
HP:0001249HP:0001249Intellectual disability0MECP2 CL E G H42046990OMIM:300496Autism susceptibility, X-linked 3.950
HP:0001249HP:0001249Intellectual disability0MECP2 CL E G H42046990OMIM:300673Encephalopathy, neonatal severe, due to mecp2 mutations950
HP:0001249HP:0001249Intellectual disability0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0001249HP:0001249Intellectual disability0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0001249HP:0001249Intellectual disability0MECP2 CL E G H42046990ORPHA:1762Proximal Xq28 duplication syndrome950
HP:0001249HP:0001249Intellectual disability0MECP2 CL E G H42046990OMIM:312750Rett syndrome950
HP:0001249HP:0001249Intellectual disability0MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndrome950
HP:0001249HP:0001249Intellectual disability0MED12 CL E G H996811957ORPHA:293707Blepharophimosis-intellectual disability syndrome, MKB typeHP:0040282 - Frequent228
HP:0001249HP:0001249Intellectual disability0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1228
HP:0001249HP:0001249Intellectual disability0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome.228
HP:0001249HP:0001249Intellectual disability0MED12 CL E G H996811957ORPHA:776Lujan-Fryns syndromeHP:0040281 - Very frequent228
HP:0001249HP:0001249Intellectual disability0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked.228
HP:0001249HP:0001249Intellectual disability0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0001249HP:0001249Intellectual disability0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0001249HP:0001249Intellectual disability0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiency74
HP:0001249HP:0001249Intellectual disability0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects74
HP:0001249HP:0001249Intellectual disability0MED23 CL E G H94392372OMIM:614249Mental retardation, autosomal recessive 18.25
HP:0001249HP:0001249Intellectual disability0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0001249HP:0001249Intellectual disability0MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0001249HP:0001249Intellectual disability0MEF2C CL E G H42086996ORPHA:2283845q14.3 microdeletion syndrome132
HP:0001249HP:0001249Intellectual disability0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0001249HP:0001249Intellectual disability0MEG3 CL E G H5538414575ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation1
HP:0001249HP:0001249Intellectual disability0MEG3 CL E G H5538414575ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0001249HP:0001249Intellectual disability0MEG3 CL E G H5538414575ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional1
HP:0001249HP:0001249Intellectual disability0MEG3 CL E G H5538414575ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0001249HP:0001249Intellectual disability0MEGF8 CL E G H19543233ORPHA:65759Carpenter syndromeHP:0040281 - Very frequent13
HP:0001249HP:0001249Intellectual disability0MEIS2 CL E G H42127001ORPHA:26119015q14 microdeletion syndromeHP:0040281 - Very frequent7
HP:0001249HP:0001249Intellectual disability0MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation.7
HP:0001249HP:0001249Intellectual disability0MERTK CL E G H104617027ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent75
HP:0001249HP:0001249Intellectual disability0MESP2 CL E G H14587329659ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional45
HP:0001249HP:0001249Intellectual disability0METTL23 CL E G H12451226988OMIM:615942Mental retardation, autosomal recessive 44.13
HP:0001249HP:0001249Intellectual disability0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001249HP:0001249Intellectual disability0METTL5 CL E G H2908125006ORPHA:2512Autosomal recessive primary microcephaly
HP:0001249HP:0001249Intellectual disability0METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0001249HP:0001249Intellectual disability0MFSD2A CL E G H8487925897ORPHA:2512Autosomal recessive primary microcephaly5
HP:0001249HP:0001249Intellectual disability0MFSD2A CL E G H8487925897OMIM:616486Microcephaly 15, primary, autosomal recessive.5
HP:0001249HP:0001249Intellectual disability0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa39
HP:0001249HP:0001249Intellectual disability0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 11HP:0040283 - Occasional11
HP:0001249HP:0001249Intellectual disability0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndromeHP:0040284 - Very rare11
HP:0001249HP:0001249Intellectual disability0MGP CL E G H42567060OMIM:245150Keutel syndrome33
HP:0001249HP:0001249Intellectual disability0MGP CL E G H42567060ORPHA:85202Keutel syndrome33
HP:0001249HP:0001249Intellectual disability0MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0001249HP:0001249Intellectual disability0MICOS13 CL E G H12598833702ORPHA:670473-methylglutaconic aciduria type 3HP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040282 - Frequent57
HP:0001249HP:0001249Intellectual disability0MID1 CL E G H42817095OMIM:300000Opitz gbbb syndrome, type I57
HP:0001249HP:0001249Intellectual disability0MID2 CL E G H110437096OMIM:300928MENTAL RETARDATION, X-LINKED 101; MRX1017
HP:0001249HP:0001249Intellectual disability0MINPP1 CL E G H95627102ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent3
HP:0001249HP:0001249Intellectual disability0MIR17HG CL E G H40797523564ORPHA:391646Feingold syndrome type 2HP:0040281 - Very frequent1
HP:0001249HP:0001249Intellectual disability0MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent69
HP:0001249HP:0001249Intellectual disability0MKKS CL E G H81957108OMIM:605231Bardet-Biedl syndrome 6.69
HP:0001249HP:0001249Intellectual disability0MKKS CL E G H81957108ORPHA:2473McKusick-Kaufman syndromeHP:0040283 - Occasional69
HP:0001249HP:0001249Intellectual disability0MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent127
HP:0001249HP:0001249Intellectual disability0MKS1 CL E G H549037121OMIM:615990BARDET-BIEDL SYNDROME 13; BBS13127
HP:0001249HP:0001249Intellectual disability0MKS1 CL E G H549037121ORPHA:475Joubert syndromeHP:0040281 - Very frequent127
HP:0001249HP:0001249Intellectual disability0MKS1 CL E G H549037121OMIM:617121JOUBERT SYNDROME 28; JBTS28127
HP:0001249HP:0001249Intellectual disability0MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent127
HP:0001249HP:0001249Intellectual disability0MLC1 CL E G H2320917082OMIM:604004Megalencephalic leukoencephalopathy with subcortical cysts 1112
HP:0001249HP:0001249Intellectual disability0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001249HP:0001249Intellectual disability0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0001249HP:0001249Intellectual disability0MLYCD CL E G H234177150OMIM:248360Malonyl-CoA decarboxylase deficiency80
HP:0001249HP:0001249Intellectual disability0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040281 - Very frequent101
HP:0001249HP:0001249Intellectual disability0MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.101
HP:0001249HP:0001249Intellectual disability0MMADHC CL E G H2724925221ORPHA:79283Methylmalonic acidemia with homocystinuria, type cblDHP:0040281 - Very frequent50
HP:0001249HP:0001249Intellectual disability0MMADHC CL E G H2724925221OMIM:277410Methylmalonic aciduria and homocystinuria, Cbld type.50
HP:0001249HP:0001249Intellectual disability0MMP14 CL E G H43237160ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040283 - Occasional2
HP:0001249HP:0001249Intellectual disability0MMP2 CL E G H43137166ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040283 - Occasional64
HP:0001249HP:0001249Intellectual disability0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-HP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0MMUT CL E G H45947526ORPHA:289916Vitamin B12-unresponsive methylmalonic acidemia type mut0HP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0MN1 CL E G H43307180OMIM:618774CEBALID SYNDROME; CEBALID1
HP:0001249HP:0001249Intellectual disability0MOCS1 CL E G H43377190OMIM:252150Molybdenum cofactor deficiency, complementation group A.96
HP:0001249HP:0001249Intellectual disability0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040282 - Frequent8
HP:0001249HP:0001249Intellectual disability0MORC2 CL E G H2288023573OMIM:619090DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN8
HP:0001249HP:0001249Intellectual disability0MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0001249HP:0001249Intellectual disability0MPDZ CL E G H87777208OMIM:615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies.29
HP:0001249HP:0001249Intellectual disability0MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive.9
HP:0001249HP:0001249Intellectual disability0MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare26
HP:0001249HP:0001249Intellectual disability0MRPS2 CL E G H5111614495OMIM:617950Combined oxidative phosphorylation deficiency 36.
HP:0001249HP:0001249Intellectual disability0MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0001249HP:0001249Intellectual disability0MSMO1 CL E G H630710545OMIM:616834Microcephaly, congenital cataract, and psoriasiform dermatitis3
HP:0001249HP:0001249Intellectual disability0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0001249HP:0001249Intellectual disability0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia
HP:0001249HP:0001249Intellectual disability0MSX2 CL E G H44887392ORPHA:60015Enlarged parietal foraminaHP:0040284 - Very rare45
HP:0001249HP:0001249Intellectual disability0MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophy29
HP:0001249HP:0001249Intellectual disability0MTFMT CL E G H12326329666OMIM:618248Mitochondrial complex I deficiency, nuclear type 2729
HP:0001249HP:0001249Intellectual disability0MTHFD1 CL E G H45227432OMIM:617780Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia5
HP:0001249HP:0001249Intellectual disability0MTHFR CL E G H45247436ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiencyHP:0040283 - Occasional183
HP:0001249HP:0001249Intellectual disability0MTOR CL E G H24753942OMIM:607341Focal cortical dysplasia of taylor.68
HP:0001249HP:0001249Intellectual disability0MTOR CL E G H24753942ORPHA:99802Hemimegalencephaly68
HP:0001249HP:0001249Intellectual disability0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040281 - Very frequent68
HP:0001249HP:0001249Intellectual disability0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0001249HP:0001249Intellectual disability0MTR CL E G H45487468OMIM:250940Homocystinuria-megaloblastic anemia, cblg Complementation type.217
HP:0001249HP:0001249Intellectual disability0MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55
HP:0001249HP:0001249Intellectual disability0MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessiveHP:0040283 - Occasional
HP:0001249HP:0001249Intellectual disability0MTRR CL E G H45527473OMIM:236270Homocystinuria-megaloblastic anemia, cbl E type88
HP:0001249HP:0001249Intellectual disability0MTRR CL E G H45527473ORPHA:2169Methylcobalamin deficiency type cblEHP:0040282 - Frequent88
HP:0001249HP:0001249Intellectual disability0MTSS2 CL E G H9215425094OMIM:620086
HP:0001249HP:0001249Intellectual disability0MVK CL E G H45987530ORPHA:29Mevalonic aciduriaHP:0040281 - Very frequent150
HP:0001249HP:0001249Intellectual disability0MYCN CL E G H46137559OMIM:164280Feingold syndrome 1.35
HP:0001249HP:0001249Intellectual disability0MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 1HP:0040284 - Very rare35
HP:0001249HP:0001249Intellectual disability0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A166
HP:0001249HP:0001249Intellectual disability0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040283 - Occasional1269
HP:0001249HP:0001249Intellectual disability0MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040282 - Frequent5
HP:0001249HP:0001249Intellectual disability0MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0MYO5A CL E G H46447602ORPHA:79476Griscelli syndrome type 1HP:0040282 - Frequent35
HP:0001249HP:0001249Intellectual disability0MYO5A CL E G H46447602OMIM:214450Griscelli syndrome, type 1.35
HP:0001249HP:0001249Intellectual disability0MYO5A CL E G H46447602ORPHA:33445Neuroectodermal melanolysosomal diseaseHP:0040281 - Very frequent35
HP:0001249HP:0001249Intellectual disability0MYO7A CL E G H46477606ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent516
HP:0001249HP:0001249Intellectual disability0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0MYRF CL E G H7451181OMIM:618280Cardiac-Urogenital syndromeHP:0040284 - Very rare2
HP:0001249HP:0001249Intellectual disability0MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndromeHP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 39.13
HP:0001249HP:0001249Intellectual disability0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent23
HP:0001249HP:0001249Intellectual disability0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0001249HP:0001249Intellectual disability0NAA15 CL E G H8015530782OMIM:617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD501
HP:0001249HP:0001249Intellectual disability0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0001249HP:0001249Intellectual disability0NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination.1
HP:0001249HP:0001249Intellectual disability0NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract1
HP:0001249HP:0001249Intellectual disability0NAGA CL E G H46687631ORPHA:79279Alpha-N-acetylgalactosaminidase deficiency type 147
HP:0001249HP:0001249Intellectual disability0NAGA CL E G H46687631ORPHA:79280Alpha-N-acetylgalactosaminidase deficiency type 247
HP:0001249HP:0001249Intellectual disability0NAGA CL E G H46687631ORPHA:79281Alpha-N-acetylgalactosaminidase deficiency type 3HP:0040281 - Very frequent47
HP:0001249HP:0001249Intellectual disability0NAGA CL E G H46687631OMIM:609242Kanzaki disease47
HP:0001249HP:0001249Intellectual disability0NAGA CL E G H46687631OMIM:609241Schindler disease, type I47
HP:0001249HP:0001249Intellectual disability0NAGLU CL E G H46697632OMIM:252920Mucopolysaccharidosis type IIIB.72
HP:0001249HP:0001249Intellectual disability0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome48
HP:0001249HP:0001249Intellectual disability0NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type.8
HP:0001249HP:0001249Intellectual disability0NAPB CL E G H6390815751OMIM:6200332
HP:0001249HP:0001249Intellectual disability0NARS1 CL E G H46777643OMIM:619091NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0001249HP:0001249Intellectual disability0NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0001249HP:0001249Intellectual disability0NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 2434
HP:0001249HP:0001249Intellectual disability0NBN CL E G H46837652OMIM:251260Nijmegen breakage syndrome.706
HP:0001249HP:0001249Intellectual disability0NCAPD2 CL E G H991824305OMIM:617983Microcephaly 21, primary, autosomal recessive
HP:0001249HP:0001249Intellectual disability0NCAPD3 CL E G H2331028952ORPHA:2512Autosomal recessive primary microcephaly1
HP:0001249HP:0001249Intellectual disability0NCAPH CL E G H233971112OMIM:617985Microcephaly 23, primary, autosomal recessive
HP:0001249HP:0001249Intellectual disability0NCDN CL E G H2315417597OMIM:619373NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0001249HP:0001249Intellectual disability0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0001249HP:0001249Intellectual disability0NDE1 CL E G H5482017619OMIM:614019Lissencephaly 496
HP:0001249HP:0001249Intellectual disability0NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040281 - Very frequent96
HP:0001249HP:0001249Intellectual disability0NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY96
HP:0001249HP:0001249Intellectual disability0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0001249HP:0001249Intellectual disability0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0001249HP:0001249Intellectual disability0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0001249HP:0001249Intellectual disability0NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathy39
HP:0001249HP:0001249Intellectual disability0NDP CL E G H46937678ORPHA:649Norrie disease39
HP:0001249HP:0001249Intellectual disability0NDP CL E G H46937678OMIM:310600Norrie disease39
HP:0001249HP:0001249Intellectual disability0NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 46.27
HP:0001249HP:0001249Intellectual disability0NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophy91
HP:0001249HP:0001249Intellectual disability0NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophy7
HP:0001249HP:0001249Intellectual disability0NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophy3
HP:0001249HP:0001249Intellectual disability0NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophy19
HP:0001249HP:0001249Intellectual disability0NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophy4
HP:0001249HP:0001249Intellectual disability0NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophy27
HP:0001249HP:0001249Intellectual disability0NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophy26
HP:0001249HP:0001249Intellectual disability0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent31
HP:0001249HP:0001249Intellectual disability0NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophy34
HP:0001249HP:0001249Intellectual disability0NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0001249HP:0001249Intellectual disability0NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophy39
HP:0001249HP:0001249Intellectual disability0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional3
HP:0001249HP:0001249Intellectual disability0NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 73
HP:0001249HP:0001249Intellectual disability0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophy81
HP:0001249HP:0001249Intellectual disability0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent65
HP:0001249HP:0001249Intellectual disability0NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophy65
HP:0001249HP:0001249Intellectual disability0NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophy22
HP:0001249HP:0001249Intellectual disability0NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophy27
HP:0001249HP:0001249Intellectual disability0NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophy38
HP:0001249HP:0001249Intellectual disability0NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophy42
HP:0001249HP:0001249Intellectual disability0NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophy74
HP:0001249HP:0001249Intellectual disability0NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophy27
HP:0001249HP:0001249Intellectual disability0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001249HP:0001249Intellectual disability0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040282 - Frequent4
HP:0001249HP:0001249Intellectual disability0NEDD4L CL E G H233277728OMIM:617201Periventricular nodular heterotopia 7.30
HP:0001249HP:0001249Intellectual disability0NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent5
HP:0001249HP:0001249Intellectual disability0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndrome
HP:0001249HP:0001249Intellectual disability0NEMF CL E G H914710663OMIM:619099INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN1
HP:0001249HP:0001249Intellectual disability0NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 243
HP:0001249HP:0001249Intellectual disability0NEU1 CL E G H47587758OMIM:256550Neuraminidase deficiency.43
HP:0001249HP:0001249Intellectual disability0NEU1 CL E G H47587758ORPHA:812Sialidosis type 1HP:0040282 - Frequent43
HP:0001249HP:0001249Intellectual disability0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0001249HP:0001249Intellectual disability0NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent52
HP:0001249HP:0001249Intellectual disability0NEXMIF CL E G H34053329433ORPHA:85277X-linked intellectual disability, Cantagrel typeHP:0040281 - Very frequent52
HP:0001249HP:0001249Intellectual disability0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040283 - Occasional1952
HP:0001249HP:0001249Intellectual disability0NF1 CL E G H47637765ORPHA:13947417q11.2 microduplication syndromeHP:0040282 - Frequent1952
HP:0001249HP:0001249Intellectual disability0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040283 - Occasional1952
HP:0001249HP:0001249Intellectual disability0NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0001249HP:0001249Intellectual disability0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0001249HP:0001249Intellectual disability0NFE2L2 CL E G H47807782OMIM:617744Immunodeficiency, developmental delay, and hypohomocysteinemia20
HP:0001249HP:0001249Intellectual disability0NFIA CL E G H47747784ORPHA:4019861p31p32 microdeletion syndrome12
HP:0001249HP:0001249Intellectual disability0NFIA CL E G H47747784OMIM:613735Brain malformations with or without urinary tract defects.12
HP:0001249HP:0001249Intellectual disability0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndrome40
HP:0001249HP:0001249Intellectual disability0NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndrome40
HP:0001249HP:0001249Intellectual disability0NFIX CL E G H47847788ORPHA:561Marshall-Smith syndromeHP:0040281 - Very frequent40
HP:0001249HP:0001249Intellectual disability0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0001249HP:0001249Intellectual disability0NFIX CL E G H47847788OMIM:614753Sotos syndrome 2.40
HP:0001249HP:0001249Intellectual disability0NGF CL E G H48037808ORPHA:64752Hereditary sensory and autonomic neuropathy type 520
HP:0001249HP:0001249Intellectual disability0NGF CL E G H48037808OMIM:608654Neuropathy, hereditary sensory and autonomic, type V20
HP:0001249HP:0001249Intellectual disability0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040282 - Frequent32
HP:0001249HP:0001249Intellectual disability0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0001249HP:0001249Intellectual disability0NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 1.27
HP:0001249HP:0001249Intellectual disability0NHP2 CL E G H5565114377OMIM:613987Dyskeratosis congenita, autosomal recessive, 2HP:0040283 - Occasional27
HP:0001249HP:0001249Intellectual disability0NHS CL E G H48107820OMIM:302350Nance-Horan syndrome88
HP:0001249HP:0001249Intellectual disability0NHS CL E G H48107820ORPHA:627Nance-Horan syndromeHP:0040282 - Frequent88
HP:0001249HP:0001249Intellectual disability0NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber type55
HP:0001249HP:0001249Intellectual disability0NIN CL E G H5119914906OMIM:614851Seckel syndrome 755
HP:0001249HP:0001249Intellectual disability0NIPA1 CL E G H12360617043ORPHA:26118315q11.2 microdeletion syndromeHP:0040282 - Frequent117
HP:0001249HP:0001249Intellectual disability0NIPA2 CL E G H8161417044ORPHA:26118315q11.2 microdeletion syndromeHP:0040282 - Frequent1
HP:0001249HP:0001249Intellectual disability0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent494
HP:0001249HP:0001249Intellectual disability0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0001249HP:0001249Intellectual disability0NKX2-1 CL E G H708011825ORPHA:95713Athyreosis51
HP:0001249HP:0001249Intellectual disability0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndrome51
HP:0001249HP:0001249Intellectual disability0NKX2-5 CL E G H14822488ORPHA:95713Athyreosis90
HP:0001249HP:0001249Intellectual disability0NKX2-5 CL E G H14822488OMIM:225250Hypothyroidism, congenital, nongoitrous, 590
HP:0001249HP:0001249Intellectual disability0NKX2-5 CL E G H14822488ORPHA:95712Thyroid ectopia90
HP:0001249HP:0001249Intellectual disability0NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophyHP:0040284 - Very rare2
HP:0001249HP:0001249Intellectual disability0NLGN3 CL E G H5441314289OMIM:300425Autism susceptibility, X-linked 1.24
HP:0001249HP:0001249Intellectual disability0NLGN4X CL E G H5750214287OMIM:300495Autism, susceptibility to, X-linked 257
HP:0001249HP:0001249Intellectual disability0NLRP3 CL E G H11454816400ORPHA:1451CINCA syndromeHP:0040283 - Occasional217
HP:0001249HP:0001249Intellectual disability0NMNAT1 CL E G H6480217877ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional15
HP:0001249HP:0001249Intellectual disability0NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare13
HP:0001249HP:0001249Intellectual disability0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent45
HP:0001249HP:0001249Intellectual disability0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent45
HP:0001249HP:0001249Intellectual disability0NODAL CL E G H48387865ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent45
HP:0001249HP:0001249Intellectual disability0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent45
HP:0001249HP:0001249Intellectual disability0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent45
HP:0001249HP:0001249Intellectual disability0NODAL CL E G H48387865ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent45
HP:0001249HP:0001249Intellectual disability0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0001249HP:0001249Intellectual disability0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0001249HP:0001249Intellectual disability0NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 1.17
HP:0001249HP:0001249Intellectual disability0NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional452
HP:0001249HP:0001249Intellectual disability0NOVA2 CL E G H48587887OMIM:618859Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0001249HP:0001249Intellectual disability0NPC1 CL E G H48647897OMIM:257220Niemann-pick disease, type C1258
HP:0001249HP:0001249Intellectual disability0NPC2 CL E G H1057714537OMIM:607625Niemann-pick disease, type C2.33
HP:0001249HP:0001249Intellectual disability0NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent85
HP:0001249HP:0001249Intellectual disability0NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defectHP:0040281 - Very frequent85
HP:0001249HP:0001249Intellectual disability0NPHP1 CL E G H48677905OMIM:266900Senior-Loken syndrome 185
HP:0001249HP:0001249Intellectual disability0NPRL2 CL E G H1064124969ORPHA:98820Familial focal epilepsy with variable fociHP:0040283 - Occasional4
HP:0001249HP:0001249Intellectual disability0NPRL3 CL E G H813114124ORPHA:98820Familial focal epilepsy with variable fociHP:0040283 - Occasional7
HP:0001249HP:0001249Intellectual disability0NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent58
HP:0001249HP:0001249Intellectual disability0NR2F1 CL E G H70257975OMIM:615722Bosch-Boonstra-Schaaf optic atrophy syndrome.37
HP:0001249HP:0001249Intellectual disability0NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndromeHP:0040282 - Frequent37
HP:0001249HP:0001249Intellectual disability0NR4A2 CL E G H49297981OMIM:61991127
HP:0001249HP:0001249Intellectual disability0NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent102
HP:0001249HP:0001249Intellectual disability0NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0001249HP:0001249Intellectual disability0NRAS CL E G H48937989OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.102
HP:0001249HP:0001249Intellectual disability0NRCAM CL E G H48977994OMIM:6198332
HP:0001249HP:0001249Intellectual disability0NRL CL E G H49018002ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0001249HP:0001249Intellectual disability0NRTN CL E G H49028007ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional4
HP:0001249HP:0001249Intellectual disability0NRXN1 CL E G H93788008OMIM:614325Pitt-Hopkins-Like syndrome 2470
HP:0001249HP:0001249Intellectual disability0NSD1 CL E G H6432414234ORPHA:2284155q35 microduplication syndromeHP:0040281 - Very frequent544
HP:0001249HP:0001249Intellectual disability0NSD1 CL E G H6432414234ORPHA:821Sotos syndrome544
HP:0001249HP:0001249Intellectual disability0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1.544
HP:0001249HP:0001249Intellectual disability0NSD1 CL E G H6432414234ORPHA:3447Weaver syndromeHP:0040281 - Very frequent544
HP:0001249HP:0001249Intellectual disability0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0001249HP:0001249Intellectual disability0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndrome118
HP:0001249HP:0001249Intellectual disability0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0001249HP:0001249Intellectual disability0NSDHL CL E G H5081413398ORPHA:251383CK syndromeHP:0040281 - Very frequent34
HP:0001249HP:0001249Intellectual disability0NSDHL CL E G H5081413398OMIM:300831Ck syndrome.34
HP:0001249HP:0001249Intellectual disability0NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0001249HP:0001249Intellectual disability0NSF CL E G H49058016OMIM:619340DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0001249HP:0001249Intellectual disability0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040281 - Very frequent84
HP:0001249HP:0001249Intellectual disability0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 5.84
HP:0001249HP:0001249Intellectual disability0NT5C2 CL E G H229788022ORPHA:320396Autosomal recessive spastic paraplegia type 45HP:0040281 - Very frequent15
HP:0001249HP:0001249Intellectual disability0NT5C2 CL E G H229788022OMIM:613162Spastic paraplegia 45, autosomal recessive.15
HP:0001249HP:0001249Intellectual disability0NTN1 CL E G H94238029ORPHA:238722Familial congenital mirror movements
HP:0001249HP:0001249Intellectual disability0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent1
HP:0001249HP:0001249Intellectual disability0NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0001249HP:0001249Intellectual disability0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040281 - Very frequent97
HP:0001249HP:0001249Intellectual disability0NTRK1 CL E G H49148031ORPHA:64752Hereditary sensory and autonomic neuropathy type 597
HP:0001249HP:0001249Intellectual disability0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0001249HP:0001249Intellectual disability0NTRK2 CL E G H49158032OMIM:617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE588
HP:0001249HP:0001249Intellectual disability0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent8
HP:0001249HP:0001249Intellectual disability0NTRK2 CL E G H49158032OMIM:613886Obesity, hyperphagia, and developmental delay.8
HP:0001249HP:0001249Intellectual disability0NUDT2 CL E G H3188049OMIM:619844
HP:0001249HP:0001249Intellectual disability0NUP107 CL E G H5712229914OMIM:618348Galloway-Mowat syndrome 75
HP:0001249HP:0001249Intellectual disability0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosis7
HP:0001249HP:0001249Intellectual disability0NUP62 CL E G H236368066OMIM:271930Striatonigral degeneration, infantile.7
HP:0001249HP:0001249Intellectual disability0NUP85 CL E G H799028734ORPHA:808Seckel syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0NUS1 CL E G H11615021042OMIM:617831MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD551
HP:0001249HP:0001249Intellectual disability0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001249HP:0001249Intellectual disability0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional2
HP:0001249HP:0001249Intellectual disability0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion121
HP:0001249HP:0001249Intellectual disability0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15121
HP:0001249HP:0001249Intellectual disability0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1121
HP:0001249HP:0001249Intellectual disability0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2121
HP:0001249HP:0001249Intellectual disability0OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria23
HP:0001249HP:0001249Intellectual disability0OCRL CL E G H49528108OMIM:309000Lowe syndrome.88
HP:0001249HP:0001249Intellectual disability0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040281 - Very frequent88
HP:0001249HP:0001249Intellectual disability0OFD1 CL E G H84812567OMIM:300804Joubert syndrome 10201
HP:0001249HP:0001249Intellectual disability0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0001249HP:0001249Intellectual disability0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040282 - Frequent201
HP:0001249HP:0001249Intellectual disability0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent201
HP:0001249HP:0001249Intellectual disability0OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent201
HP:0001249HP:0001249Intellectual disability0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2201
HP:0001249HP:0001249Intellectual disability0OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0001249HP:0001249Intellectual disability0OPA1 CL E G H49768140OMIM:210000Behr syndrome.214
HP:0001249HP:0001249Intellectual disability0OPA3 CL E G H802078142ORPHA:670473-methylglutaconic aciduria type 3HP:0040282 - Frequent163
HP:0001249HP:0001249Intellectual disability0OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0001249HP:0001249Intellectual disability0OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndromeHP:0040281 - Very frequent55
HP:0001249HP:0001249Intellectual disability0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional53
HP:0001249HP:0001249Intellectual disability0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0001249HP:0001249Intellectual disability0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional21
HP:0001249HP:0001249Intellectual disability0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional39
HP:0001249HP:0001249Intellectual disability0OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3.
HP:0001249HP:0001249Intellectual disability0OTC CL E G H50098512OMIM:311250Ornithine transcarbamylase deficiency, hyperammonemia due to.369
HP:0001249HP:0001249Intellectual disability0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001249HP:0001249Intellectual disability0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome4
HP:0001249HP:0001249Intellectual disability0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0001249HP:0001249Intellectual disability0OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional41
HP:0001249HP:0001249Intellectual disability0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0001249HP:0001249Intellectual disability0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040281 - Very frequent24
HP:0001249HP:0001249Intellectual disability0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome24
HP:0001249HP:0001249Intellectual disability0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0001249HP:0001249Intellectual disability0PAFAH1B1 CL E G H50488574OMIM:607432Lissencephaly 1.231
HP:0001249HP:0001249Intellectual disability0PAFAH1B1 CL E G H50488574ORPHA:95232Lissencephaly due to LIS1 mutation231
HP:0001249HP:0001249Intellectual disability0PAH CL E G H50538582ORPHA:79254Classic phenylketonuria641
HP:0001249HP:0001249Intellectual disability0PAH CL E G H50538582ORPHA:2209Maternal phenylketonuriaHP:0040282 - Frequent641
HP:0001249HP:0001249Intellectual disability0PAK1 CL E G H50588590OMIM:618158Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0001249HP:0001249Intellectual disability0PAK2 CL E G H50628591OMIM:618458
HP:0001249HP:0001249Intellectual disability0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0001249HP:0001249Intellectual disability0PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040282 - Frequent1349
HP:0001249HP:0001249Intellectual disability0PARN CL E G H50738609ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent26
HP:0001249HP:0001249Intellectual disability0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent14
HP:0001249HP:0001249Intellectual disability0PAX1 CL E G H50758615ORPHA:2792Otofaciocervical syndromeHP:0040281 - Very frequent3
HP:0001249HP:0001249Intellectual disability0PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0001249HP:0001249Intellectual disability0PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome.39
HP:0001249HP:0001249Intellectual disability0PAX3 CL E G H50778617ORPHA:896Waardenburg syndrome type 3HP:0040283 - Occasional59
HP:0001249HP:0001249Intellectual disability0PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 3.59
HP:0001249HP:0001249Intellectual disability0PAX6 CL E G H50808620ORPHA:1065Aniridia-cerebellar ataxia-intellectual disability syndromeHP:0040281 - Very frequent194
HP:0001249HP:0001249Intellectual disability0PAX6 CL E G H50808620ORPHA:893WAGR syndromeHP:0040282 - Frequent194
HP:0001249HP:0001249Intellectual disability0PAX6 CL E G H50808620OMIM:194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndromeHP:0040282 - Frequent194
HP:0001249HP:0001249Intellectual disability0PAX8 CL E G H78498622ORPHA:95713Athyreosis63
HP:0001249HP:0001249Intellectual disability0PAX8 CL E G H78498622ORPHA:95712Thyroid ectopia63
HP:0001249HP:0001249Intellectual disability0PAX8 CL E G H78498622ORPHA:95720Thyroid hypoplasia63
HP:0001249HP:0001249Intellectual disability0PC CL E G H50918636OMIM:266150Pyruvate carboxylase deficiency.118
HP:0001249HP:0001249Intellectual disability0PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0PCCA CL E G H50958653ORPHA:35Propionic acidemiaHP:0040282 - Frequent96
HP:0001249HP:0001249Intellectual disability0PCCB CL E G H50968654ORPHA:35Propionic acidemiaHP:0040282 - Frequent92
HP:0001249HP:0001249Intellectual disability0PCDH12 CL E G H512948657OMIM:251280Microcephaly, seizures, spasticity, and brain calcifications
HP:0001249HP:0001249Intellectual disability0PCDH15 CL E G H6521714674ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent352
HP:0001249HP:0001249Intellectual disability0PCDH19 CL E G H5752614270OMIM:300088Epileptic encephalopathy, early infantile, 9HP:0040282 - Frequent225
HP:0001249HP:0001249Intellectual disability0PCDH19 CL E G H5752614270ORPHA:101039Female restricted epilepsy with intellectual disabilityHP:0040282 - Frequent225
HP:0001249HP:0001249Intellectual disability0PCDHGC4 CL E G H560988717OMIM:619880
HP:0001249HP:0001249Intellectual disability0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0001249HP:0001249Intellectual disability0PCNA CL E G H51118729ORPHA:438134PCNA-related progressive neurodegenerative photosensitivity syndrome1
HP:0001249HP:0001249Intellectual disability0PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type IIHP:0040283 - Occasional531
HP:0001249HP:0001249Intellectual disability0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0001249HP:0001249Intellectual disability0PCNT CL E G H511616068ORPHA:808Seckel syndromeHP:0040281 - Very frequent531
HP:0001249HP:0001249Intellectual disability0PCYT1A CL E G H51308754ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional11
HP:0001249HP:0001249Intellectual disability0PCYT2 CL E G H58338756OMIM:618770SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0001249HP:0001249Intellectual disability0PDCD6IP CL E G H100158766OMIM:620047
HP:0001249HP:0001249Intellectual disability0PDE10A CL E G H108468772OMIM:616922Striatal degeneration, autosomal dominant 25
HP:0001249HP:0001249Intellectual disability0PDE2A CL E G H51388777OMIM:619150INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0001249HP:0001249Intellectual disability0PDE4D CL E G H51448783ORPHA:950AcrodysostosisHP:0040281 - Very frequent113
HP:0001249HP:0001249Intellectual disability0PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistanceHP:0040281 - Very frequent113
HP:0001249HP:0001249Intellectual disability0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent113
HP:0001249HP:0001249Intellectual disability0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040281 - Very frequent113
HP:0001249HP:0001249Intellectual disability0PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent116
HP:0001249HP:0001249Intellectual disability0PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent126
HP:0001249HP:0001249Intellectual disability0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent1
HP:0001249HP:0001249Intellectual disability0PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent18
HP:0001249HP:0001249Intellectual disability0PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophy88
HP:0001249HP:0001249Intellectual disability0PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency.88
HP:0001249HP:0001249Intellectual disability0PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiency88
HP:0001249HP:0001249Intellectual disability0PDHX CL E G H805021350OMIM:245349Pyruvate dehydrogenase e3-binding protein deficiency.98
HP:0001249HP:0001249Intellectual disability0PDHX CL E G H805021350ORPHA:255182Pyruvate dehydrogenase E3-binding protein deficiency98
HP:0001249HP:0001249Intellectual disability0PDP1 CL E G H547049279OMIM:608782Pyruvate dehydrogenase phosphatase deficiency.52
HP:0001249HP:0001249Intellectual disability0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0PDSS1 CL E G H2359017759OMIM:614651Coenzyme Q10 deficiency, primary, 240
HP:0001249HP:0001249Intellectual disability0PDX1 CL E G H36516107ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent30
HP:0001249HP:0001249Intellectual disability0PDZD8 CL E G H11898726974OMIM:620021
HP:0001249HP:0001249Intellectual disability0PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040283 - Occasional66
HP:0001249HP:0001249Intellectual disability0PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophy6
HP:0001249HP:0001249Intellectual disability0PEX1 CL E G H51898850ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040281 - Very frequent169
HP:0001249HP:0001249Intellectual disability0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0001249HP:0001249Intellectual disability0PEX10 CL E G H51928851ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiency75
HP:0001249HP:0001249Intellectual disability0PEX11B CL E G H87998853OMIM:614920Peroxisome biogenesis disorder 14B4
HP:0001249HP:0001249Intellectual disability0PEX12 CL E G H51938854OMIM:266510Peroxisome biogenesis disorder 3B.65
HP:0001249HP:0001249Intellectual disability0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0001249HP:0001249Intellectual disability0PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0001249HP:0001249Intellectual disability0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0001249HP:0001249Intellectual disability0PEX5 CL E G H58309719OMIM:202370Peroxisome biogenesis disorder 2B.99
HP:0001249HP:0001249Intellectual disability0PEX5 CL E G H58309719OMIM:616716RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP599
HP:0001249HP:0001249Intellectual disability0PEX6 CL E G H51908859ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040281 - Very frequent98
HP:0001249HP:0001249Intellectual disability0PEX6 CL E G H51908859OMIM:614863Peroxisome biogenesis disorder 4B.98
HP:0001249HP:0001249Intellectual disability0PEX7 CL E G H51918860OMIM:614879Peroxisome biogenesis disorder 9B.72
HP:0001249HP:0001249Intellectual disability0PEX7 CL E G H51918860ORPHA:773Refsum disease72
HP:0001249HP:0001249Intellectual disability0PEX7 CL E G H51918860OMIM:215100Rhizomelic chondrodysplasia punctata, type 1.72
HP:0001249HP:0001249Intellectual disability0PGAP1 CL E G H8005525712ORPHA:401820Autosomal recessive spastic paraplegia type 6720
HP:0001249HP:0001249Intellectual disability0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0001249HP:0001249Intellectual disability0PGAP2 CL E G H2731517893OMIM:614207Hyperphosphatasia with mental retardation syndrome 38
HP:0001249HP:0001249Intellectual disability0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040282 - Frequent8
HP:0001249HP:0001249Intellectual disability0PGAP3 CL E G H9321023719OMIM:615716Hyperphosphatasia with mental retardation syndrome 4.20
HP:0001249HP:0001249Intellectual disability0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040282 - Frequent20
HP:0001249HP:0001249Intellectual disability0PGK1 CL E G H52308896ORPHA:713Glycogen storage disease due to phosphoglycerate kinase 1 deficiencyHP:0040282 - Frequent21
HP:0001249HP:0001249Intellectual disability0PGK1 CL E G H52308896OMIM:300653Phosphoglycerate kinase 1 deficiency.21
HP:0001249HP:0001249Intellectual disability0PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0001249HP:0001249Intellectual disability0PGM3 CL E G H52388907ORPHA:443811PGM3-CDG15
HP:0001249HP:0001249Intellectual disability0PHACTR1 CL E G H22169220990OMIM:618298DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE701
HP:0001249HP:0001249Intellectual disability0PHC1 CL E G H19113182ORPHA:2512Autosomal recessive primary microcephaly16
HP:0001249HP:0001249Intellectual disability0PHF21A CL E G H5131724156OMIM:618725INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS2
HP:0001249HP:0001249Intellectual disability0PHF21A CL E G H5131724156ORPHA:52022Potocki-Shaffer syndromeHP:0040283 - Occasional2
HP:0001249HP:0001249Intellectual disability0PHF6 CL E G H8429518145ORPHA:127Borjeson-Forssman-Lehmann syndromeHP:0040281 - Very frequent29
HP:0001249HP:0001249Intellectual disability0PHF6 CL E G H8429518145OMIM:301900Borjeson-Forssman-Lehmann syndrome29
HP:0001249HP:0001249Intellectual disability0PHF8 CL E G H2313320672OMIM:300263Siderius X-linked mental retardation syndrome23
HP:0001249HP:0001249Intellectual disability0PHF8 CL E G H2313320672ORPHA:85287X-linked intellectual disability, Siderius type23
HP:0001249HP:0001249Intellectual disability0PHGDH CL E G H262278923OMIM:601815Phosphoglycerate dehydrogenase deficiency.37
HP:0001249HP:0001249Intellectual disability0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features.11
HP:0001249HP:0001249Intellectual disability0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0001249HP:0001249Intellectual disability0PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040283 - Occasional54
HP:0001249HP:0001249Intellectual disability0PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040283 - Occasional48
HP:0001249HP:0001249Intellectual disability0PHOX2B CL E G H89299143ORPHA:99803Haddad syndromeHP:0040282 - Frequent86
HP:0001249HP:0001249Intellectual disability0PHYH CL E G H52648940ORPHA:773Refsum disease45
HP:0001249HP:0001249Intellectual disability0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040282 - Frequent11
HP:0001249HP:0001249Intellectual disability0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0001249HP:0001249Intellectual disability0PIBF1 CL E G H1046423352ORPHA:475Joubert syndromeHP:0040281 - Very frequent4
HP:0001249HP:0001249Intellectual disability0PIDD1 CL E G H5536716491OMIM:619827INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0001249HP:0001249Intellectual disability0PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 377
HP:0001249HP:0001249Intellectual disability0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0001249HP:0001249Intellectual disability0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040281 - Very frequent77
HP:0001249HP:0001249Intellectual disability0PIGC CL E G H52798960OMIM:617816Glycosylphosphatidylinositol biosynthesis defect 16.1
HP:0001249HP:0001249Intellectual disability0PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001249HP:0001249Intellectual disability0PIGG CL E G H5487225985OMIM:616917Mental retardation, autosomal recessive 537
HP:0001249HP:0001249Intellectual disability0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndrome7
HP:0001249HP:0001249Intellectual disability0PIGL CL E G H94878966ORPHA:3474CHIME syndromeHP:0040281 - Very frequent36
HP:0001249HP:0001249Intellectual disability0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040282 - Frequent36
HP:0001249HP:0001249Intellectual disability0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome.36
HP:0001249HP:0001249Intellectual disability0PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040281 - Very frequent37
HP:0001249HP:0001249Intellectual disability0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0001249HP:0001249Intellectual disability0PIGO CL E G H8472023215OMIM:614749Hyperphosphatasia with mental retardation syndrome 284
HP:0001249HP:0001249Intellectual disability0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040282 - Frequent84
HP:0001249HP:0001249Intellectual disability0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent2
HP:0001249HP:0001249Intellectual disability0PIGP CL E G H512273046OMIM:617599Epileptic encephalopathy, early infantile, 552
HP:0001249HP:0001249Intellectual disability0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent3
HP:0001249HP:0001249Intellectual disability0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome12
HP:0001249HP:0001249Intellectual disability0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 312
HP:0001249HP:0001249Intellectual disability0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0001249HP:0001249Intellectual disability0PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation57
HP:0001249HP:0001249Intellectual disability0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040282 - Frequent57
HP:0001249HP:0001249Intellectual disability0PIGW CL E G H28409823213OMIM:616025Glycosylphosphatidylinositol biosynthesis defect 11.6
HP:0001249HP:0001249Intellectual disability0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040282 - Frequent6
HP:0001249HP:0001249Intellectual disability0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040282 - Frequent2
HP:0001249HP:0001249Intellectual disability0PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040282 - Frequent162
HP:0001249HP:0001249Intellectual disability0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5162
HP:0001249HP:0001249Intellectual disability0PIK3CA CL E G H52908975ORPHA:99802Hemimegalencephaly162
HP:0001249HP:0001249Intellectual disability0PIK3CA CL E G H52908975OMIM:602501Megalencephaly-Capillary malformation-polymicrogyria syndrome.162
HP:0001249HP:0001249Intellectual disability0PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndromeHP:0040282 - Frequent162
HP:0001249HP:0001249Intellectual disability0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0001249HP:0001249Intellectual disability0PIK3R2 CL E G H52968980OMIM:603387Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome12
HP:0001249HP:0001249Intellectual disability0PISD CL E G H237618999OMIM:618889LIBERFARB SYNDROME; LIBF1
HP:0001249HP:0001249Intellectual disability0PITRM1 CL E G H1053117663OMIM:619405SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR301
HP:0001249HP:0001249Intellectual disability0PITX3 CL E G H53099006OMIM:610623Cataract 11, multiple types.6
HP:0001249HP:0001249Intellectual disability0PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A.133
HP:0001249HP:0001249Intellectual disability0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies.3
HP:0001249HP:0001249Intellectual disability0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0001249HP:0001249Intellectual disability0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0PLEKHG2 CL E G H6485729515OMIM:616763Leukodystrophy and acquired microcephaly with or without dystonia3
HP:0001249HP:0001249Intellectual disability0PLK4 CL E G H1073311397ORPHA:2518Autosomal recessive chorioretinopathy-microcephaly syndromeHP:0040282 - Frequent11
HP:0001249HP:0001249Intellectual disability0PLK4 CL E G H1073311397OMIM:616171Microcephaly and chorioretinopathy, autosomal recessive, 2.11
HP:0001249HP:0001249Intellectual disability0PLK4 CL E G H1073311397ORPHA:808Seckel syndromeHP:0040281 - Very frequent11
HP:0001249HP:0001249Intellectual disability0PLP1 CL E G H53549086ORPHA:280234Null syndrome60
HP:0001249HP:0001249Intellectual disability0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease.60
HP:0001249HP:0001249Intellectual disability0PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic form60
HP:0001249HP:0001249Intellectual disability0PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal form60
HP:0001249HP:0001249Intellectual disability0PLP1 CL E G H53549086ORPHA:280224Pelizaeus-Merzbacher disease, transitional form60
HP:0001249HP:0001249Intellectual disability0PLP1 CL E G H53549086OMIM:312920Spastic paraplegia 2, X-linked.60
HP:0001249HP:0001249Intellectual disability0PLP1 CL E G H53549086ORPHA:99015Spastic paraplegia type 2HP:0040282 - Frequent60
HP:0001249HP:0001249Intellectual disability0PLPBP CL E G H112129457OMIM:617290Epilepsy, early-onset, vitamin b6-dependent.6
HP:0001249HP:0001249Intellectual disability0PLPBP CL E G H112129457ORPHA:3006Pyridoxine-dependent epilepsyHP:0040283 - Occasional6
HP:0001249HP:0001249Intellectual disability0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040283 - Occasional150
HP:0001249HP:0001249Intellectual disability0PMPCA CL E G H2320318667ORPHA:1170Autosomal recessive cerebelloparenchymal disorder type 3HP:0040281 - Very frequent7
HP:0001249HP:0001249Intellectual disability0PMPCA CL E G H2320318667OMIM:213200Spinocerebellar ataxia, autosomal recessive 2.7
HP:0001249HP:0001249Intellectual disability0PMPCB CL E G H95129119OMIM:617954Multiple mitochondrial dysfunctions syndrome 6.
HP:0001249HP:0001249Intellectual disability0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent244
HP:0001249HP:0001249Intellectual disability0PNKP CL E G H112849154OMIM:613402Microcephaly, seizures, and developmental delay244
HP:0001249HP:0001249Intellectual disability0PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency.52
HP:0001249HP:0001249Intellectual disability0PNP CL E G H48607892ORPHA:760Purine nucleoside phosphorylase deficiencyHP:0040283 - Occasional52
HP:0001249HP:0001249Intellectual disability0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathy65
HP:0001249HP:0001249Intellectual disability0PNPLA2 CL E G H5710430802ORPHA:565612Triglyceride deposit cardiomyovasculopathyHP:0040283 - Occasional65
HP:0001249HP:0001249Intellectual disability0PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome103
HP:0001249HP:0001249Intellectual disability0PNPLA6 CL E G H1090816268ORPHA:2377Laurence-Moon syndromeHP:0040281 - Very frequent103
HP:0001249HP:0001249Intellectual disability0PNPLA6 CL E G H1090816268OMIM:245800Laurence-Moon syndrome.103
HP:0001249HP:0001249Intellectual disability0PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome.103
HP:0001249HP:0001249Intellectual disability0PODXL CL E G H54209171ORPHA:391411Atypical juvenile parkinsonismHP:0040282 - Frequent6
HP:0001249HP:0001249Intellectual disability0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040281 - Very frequent35
HP:0001249HP:0001249Intellectual disability0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0001249HP:0001249Intellectual disability0POLA1 CL E G H54229173OMIM:301220PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR2
HP:0001249HP:0001249Intellectual disability0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome.2
HP:0001249HP:0001249Intellectual disability0POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch type2
HP:0001249HP:0001249Intellectual disability0POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type)464
HP:0001249HP:0001249Intellectual disability0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional464
HP:0001249HP:0001249Intellectual disability0POLR1C CL E G H953320194OMIM:616494Leukodystrophy, hypomyelinating, 11.38
HP:0001249HP:0001249Intellectual disability0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndrome138
HP:0001249HP:0001249Intellectual disability0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0001249HP:0001249Intellectual disability0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0001249HP:0001249Intellectual disability0POLR3B CL E G H5570330348OMIM:619742CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I67
HP:0001249HP:0001249Intellectual disability0POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism67
HP:0001249HP:0001249Intellectual disability0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0001249HP:0001249Intellectual disability0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvement180
HP:0001249HP:0001249Intellectual disability0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0001249HP:0001249Intellectual disability0POMGNT1 CL E G H5562419139OMIM:613151Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3.180
HP:0001249HP:0001249Intellectual disability0POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent180
HP:0001249HP:0001249Intellectual disability0POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent180
HP:0001249HP:0001249Intellectual disability0POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent33
HP:0001249HP:0001249Intellectual disability0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvement18
HP:0001249HP:0001249Intellectual disability0POMK CL E G H8419726267OMIM:616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1218
HP:0001249HP:0001249Intellectual disability0POMK CL E G H8419726267ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent18
HP:0001249HP:0001249Intellectual disability0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvement213
HP:0001249HP:0001249Intellectual disability0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040281 - Very frequent213
HP:0001249HP:0001249Intellectual disability0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0001249HP:0001249Intellectual disability0POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1213
HP:0001249HP:0001249Intellectual disability0POMT1 CL E G H105859202OMIM:609308Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1.213
HP:0001249HP:0001249Intellectual disability0POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040282 - Frequent213
HP:0001249HP:0001249Intellectual disability0POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent213
HP:0001249HP:0001249Intellectual disability0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvement221
HP:0001249HP:0001249Intellectual disability0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040281 - Very frequent221
HP:0001249HP:0001249Intellectual disability0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0001249HP:0001249Intellectual disability0POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0001249HP:0001249Intellectual disability0POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2.221
HP:0001249HP:0001249Intellectual disability0POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent221
HP:0001249HP:0001249Intellectual disability0POR CL E G H54479208OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.76
HP:0001249HP:0001249Intellectual disability0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0001249HP:0001249Intellectual disability0POU1F1 CL E G H54499210OMIM:613038Pituitary hormone deficiency, combined, 1.36
HP:0001249HP:0001249Intellectual disability0POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0001249HP:0001249Intellectual disability0POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndrome40
HP:0001249HP:0001249Intellectual disability0POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability
HP:0001249HP:0001249Intellectual disability0PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophyHP:0040282 - Frequent42
HP:0001249HP:0001249Intellectual disability0PPFIBP1 CL E G H84969249OMIM:620024
HP:0001249HP:0001249Intellectual disability0PPIL1 CL E G H516459260OMIM:619301PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0001249HP:0001249Intellectual disability0PPM1B CL E G H54959276ORPHA:1636932p21 microdeletion syndrome
HP:0001249HP:0001249Intellectual disability0PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold.22
HP:0001249HP:0001249Intellectual disability0PPP1CB CL E G H55009282ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040283 - Occasional9
HP:0001249HP:0001249Intellectual disability0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 22
HP:0001249HP:0001249Intellectual disability0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040281 - Very frequent2
HP:0001249HP:0001249Intellectual disability0PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 36.13
HP:0001249HP:0001249Intellectual disability0PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeHP:0040281 - Very frequent13
HP:0001249HP:0001249Intellectual disability0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome10
HP:0001249HP:0001249Intellectual disability0PPP2R5D CL E G H55289312OMIM:616355Mental retardation, autosomal dominant 35.10
HP:0001249HP:0001249Intellectual disability0PPP3CA CL E G H55309314OMIM:618265Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development.2
HP:0001249HP:0001249Intellectual disability0PPP3CA CL E G H55309314OMIM:617711Epileptic encephalopathy, infantile or early childhood, 1.2
HP:0001249HP:0001249Intellectual disability0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent2
HP:0001249HP:0001249Intellectual disability0PPT1 CL E G H55389325OMIM:256730Ceroid lipofuscinosis, neuronal, 1.172
HP:0001249HP:0001249Intellectual disability0PQBP1 CL E G H100849330ORPHA:93946Hamel cerebro-palato-cardiac syndromeHP:0040281 - Very frequent28
HP:0001249HP:0001249Intellectual disability0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0001249HP:0001249Intellectual disability0PQBP1 CL E G H100849330ORPHA:93947X-linked intellectual disability, Golabi-Ito-Hall typeHP:0040281 - Very frequent28
HP:0001249HP:0001249Intellectual disability0PQBP1 CL E G H100849330ORPHA:93945X-linked intellectual disability, Porteous type28
HP:0001249HP:0001249Intellectual disability0PQBP1 CL E G H100849330ORPHA:93950X-linked intellectual disability, Sutherland-Haan type28
HP:0001249HP:0001249Intellectual disability0PRCD CL E G H76820632528ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent39
HP:0001249HP:0001249Intellectual disability0PRDM12 CL E G H5933513997OMIM:616488Neuropathy, hereditary sensory and autonomic, type VIII6
HP:0001249HP:0001249Intellectual disability0PRDM13 CL E G H5933613998OMIM:619761CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH2
HP:0001249HP:0001249Intellectual disability0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent148
HP:0001249HP:0001249Intellectual disability0PRDX1 CL E G H50529352OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.
HP:0001249HP:0001249Intellectual disability0PREPL CL E G H958130228ORPHA:1636932p21 microdeletion syndrome7
HP:0001249HP:0001249Intellectual disability0PRICKLE1 CL E G H14416517019ORPHA:308Progressive myoclonic epilepsy type 1HP:0040283 - Occasional133
HP:0001249HP:0001249Intellectual disability0PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional2
HP:0001249HP:0001249Intellectual disability0PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional2
HP:0001249HP:0001249Intellectual disability0PRKAR1A CL E G H55739388ORPHA:950AcrodysostosisHP:0040281 - Very frequent134
HP:0001249HP:0001249Intellectual disability0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance.134
HP:0001249HP:0001249Intellectual disability0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent134
HP:0001249HP:0001249Intellectual disability0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0PRKRA CL E G H85759438ORPHA:210571Dystonia 16HP:0040284 - Very rare37
HP:0001249HP:0001249Intellectual disability0PRMT7 CL E G H5449625557OMIM:617157Short stature, brachydactyly, intellectual developmental disability, and seizures.6
HP:0001249HP:0001249Intellectual disability0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040281 - Very frequent6
HP:0001249HP:0001249Intellectual disability0PRODH CL E G H56259453OMIM:239500Hyperprolinemia, type I13
HP:0001249HP:0001249Intellectual disability0PROKR2 CL E G H12867415836ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional34
HP:0001249HP:0001249Intellectual disability0PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional34
HP:0001249HP:0001249Intellectual disability0PROM1 CL E G H88429454ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent110
HP:0001249HP:0001249Intellectual disability0PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0001249HP:0001249Intellectual disability0PRPF3 CL E G H912917348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent28
HP:0001249HP:0001249Intellectual disability0PRPF31 CL E G H2612115446ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent70
HP:0001249HP:0001249Intellectual disability0PRPF4 CL E G H912817349ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0001249HP:0001249Intellectual disability0PRPF6 CL E G H2414815860ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent51
HP:0001249HP:0001249Intellectual disability0PRPF8 CL E G H1059417340ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent94
HP:0001249HP:0001249Intellectual disability0PRPH2 CL E G H59619942ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent159
HP:0001249HP:0001249Intellectual disability0PRPS1 CL E G H56319462OMIM:301835Arts syndrome.49
HP:0001249HP:0001249Intellectual disability0PRPS1 CL E G H56319462ORPHA:1187Lethal ataxia with deafness and optic atrophy49
HP:0001249HP:0001249Intellectual disability0PRPS1 CL E G H56319462OMIM:300661Phosphoribosylpyrophosphate synthetase superactivity.49
HP:0001249HP:0001249Intellectual disability0PRPS1 CL E G H56319462ORPHA:411543Severe phosphoribosylpyrophosphate synthetase superactivityHP:0040282 - Frequent49
HP:0001249HP:0001249Intellectual disability0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome49
HP:0001249HP:0001249Intellectual disability0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0001249HP:0001249Intellectual disability0PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040284 - Very rare94
HP:0001249HP:0001249Intellectual disability0PRRT2 CL E G H11247630500ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040282 - Frequent94
HP:0001249HP:0001249Intellectual disability0PRSS12 CL E G H84929477OMIM:249500Mental retardation, autosomal recessive 1.73
HP:0001249HP:0001249Intellectual disability0PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies8
HP:0001249HP:0001249Intellectual disability0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0001249HP:0001249Intellectual disability0PSEN1 CL E G H56639508ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional241
HP:0001249HP:0001249Intellectual disability0PSEN2 CL E G H56649509ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional59
HP:0001249HP:0001249Intellectual disability0PSMB1 CL E G H56899537OMIM:6200382
HP:0001249HP:0001249Intellectual disability0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0001249HP:0001249Intellectual disability0PSMC1 CL E G H57009547OMIM:6200711
HP:0001249HP:0001249Intellectual disability0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndrome4
HP:0001249HP:0001249Intellectual disability0PSMD12 CL E G H57189557OMIM:617516Stankiewicz-Isidor syndrome4
HP:0001249HP:0001249Intellectual disability0PSPH CL E G H57239577ORPHA:793503-phosphoserine phosphatase deficiency, infantile/juvenile form54
HP:0001249HP:0001249Intellectual disability0PSPH CL E G H57239577OMIM:614023Phosphoserine phosphatase deficiency.54
HP:0001249HP:0001249Intellectual disability0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent665
HP:0001249HP:0001249Intellectual disability0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndromeHP:0040283 - Occasional665
HP:0001249HP:0001249Intellectual disability0PTCH1 CL E G H57279585ORPHA:377Gorlin syndromeHP:0040283 - Occasional665
HP:0001249HP:0001249Intellectual disability0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent665
HP:0001249HP:0001249Intellectual disability0PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent665
HP:0001249HP:0001249Intellectual disability0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent665
HP:0001249HP:0001249Intellectual disability0PTCH1 CL E G H57279585ORPHA:77301Monosomy 9q22.3HP:0040281 - Very frequent665
HP:0001249HP:0001249Intellectual disability0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent665
HP:0001249HP:0001249Intellectual disability0PTCH1 CL E G H57279585ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent665
HP:0001249HP:0001249Intellectual disability0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndromeHP:0040283 - Occasional40
HP:0001249HP:0001249Intellectual disability0PTCH2 CL E G H86439586ORPHA:377Gorlin syndromeHP:0040283 - Occasional40
HP:0001249HP:0001249Intellectual disability0PTCHD1 CL E G H13941126392OMIM:300830Autism, susceptibility to, X-linked 4.34
HP:0001249HP:0001249Intellectual disability0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040281 - Very frequent6
HP:0001249HP:0001249Intellectual disability0PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism.6
HP:0001249HP:0001249Intellectual disability0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040283 - Occasional948
HP:0001249HP:0001249Intellectual disability0PTEN CL E G H57289588ORPHA:101070Bilateral frontoparietal polymicrogyriaHP:0040281 - Very frequent948
HP:0001249HP:0001249Intellectual disability0PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040282 - Frequent948
HP:0001249HP:0001249Intellectual disability0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1.948
HP:0001249HP:0001249Intellectual disability0PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancyHP:0040282 - Frequent948
HP:0001249HP:0001249Intellectual disability0PTEN CL E G H57289588OMIM:605309Macrocephaly/autism syndrome.948
HP:0001249HP:0001249Intellectual disability0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0001249HP:0001249Intellectual disability0PTEN CL E G H57289588ORPHA:2969Proteus-like syndromeHP:0040281 - Very frequent948
HP:0001249HP:0001249Intellectual disability0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1291
HP:0001249HP:0001249Intellectual disability0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0001249HP:0001249Intellectual disability0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentigines291
HP:0001249HP:0001249Intellectual disability0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease6
HP:0001249HP:0001249Intellectual disability0PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset.6
HP:0001249HP:0001249Intellectual disability0PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040283 - Occasional19
HP:0001249HP:0001249Intellectual disability0PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A19
HP:0001249HP:0001249Intellectual disability0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0001249HP:0001249Intellectual disability0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040281 - Very frequent19
HP:0001249HP:0001249Intellectual disability0PUM1 CL E G H969814957OMIM:617931Spinocerebellar ataxia 47.1
HP:0001249HP:0001249Intellectual disability0PURA CL E G H58139701OMIM:616158Mental retardation, autosomal dominant 31.53
HP:0001249HP:0001249Intellectual disability0PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion53
HP:0001249HP:0001249Intellectual disability0PUS1 CL E G H8032415508ORPHA:2598Mitochondrial myopathy and sideroblastic anemiaHP:0040282 - Frequent57
HP:0001249HP:0001249Intellectual disability0PUS1 CL E G H8032415508OMIM:600462Myopathy, lactic acidosis, and sideroblastic anemia 1.57
HP:0001249HP:0001249Intellectual disability0PUS3 CL E G H8348025461OMIM:617051MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT551
HP:0001249HP:0001249Intellectual disability0PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1
HP:0001249HP:0001249Intellectual disability0PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature.
HP:0001249HP:0001249Intellectual disability0PYCR1 CL E G H58319721OMIM:614438Cutis laxa, autosomal recessive, type IIIB.53
HP:0001249HP:0001249Intellectual disability0PYCR1 CL E G H58319721ORPHA:2078Geroderma osteodysplastica53
HP:0001249HP:0001249Intellectual disability0PYCR2 CL E G H2992030262ORPHA:2512Autosomal recessive primary microcephaly11
HP:0001249HP:0001249Intellectual disability0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040281 - Very frequent11
HP:0001249HP:0001249Intellectual disability0QDPR CL E G H58609752ORPHA:226Dihydropteridine reductase deficiencyHP:0040281 - Very frequent43
HP:0001249HP:0001249Intellectual disability0QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C.43
HP:0001249HP:0001249Intellectual disability0QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0001249HP:0001249Intellectual disability0RAB18 CL E G H2293114244ORPHA:2510Micro syndrome85
HP:0001249HP:0001249Intellectual disability0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0001249HP:0001249Intellectual disability0RAB23 CL E G H5171514263ORPHA:65759Carpenter syndromeHP:0040281 - Very frequent31
HP:0001249HP:0001249Intellectual disability0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0001249HP:0001249Intellectual disability0RAB39B CL E G H11644216499ORPHA:2379Early-onset parkinsonism-intellectual disability syndromeHP:0040281 - Very frequent34
HP:0001249HP:0001249Intellectual disability0RAB39B CL E G H11644216499OMIM:300271Mental retardation, X-linked 7234
HP:0001249HP:0001249Intellectual disability0RAB39B CL E G H11644216499OMIM:311510Waisman syndrome.34
HP:0001249HP:0001249Intellectual disability0RAB3GAP1 CL E G H2293017063ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040281 - Very frequent90
HP:0001249HP:0001249Intellectual disability0RAB3GAP1 CL E G H2293017063OMIM:619420MARTSOLF SYNDROME 2; MARTS290
HP:0001249HP:0001249Intellectual disability0RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndrome90
HP:0001249HP:0001249Intellectual disability0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 1.90
HP:0001249HP:0001249Intellectual disability0RAB3GAP2 CL E G H2578217168ORPHA:401830Autosomal recessive spastic paraplegia type 69135
HP:0001249HP:0001249Intellectual disability0RAB3GAP2 CL E G H2578217168ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040281 - Very frequent135
HP:0001249HP:0001249Intellectual disability0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0001249HP:0001249Intellectual disability0RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndrome135
HP:0001249HP:0001249Intellectual disability0RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2135
HP:0001249HP:0001249Intellectual disability0RAB5IF CL E G H5596915870OMIM:616994
HP:0001249HP:0001249Intellectual disability0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0001249HP:0001249Intellectual disability0RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromHP:0040281 - Very frequent3
HP:0001249HP:0001249Intellectual disability0RAC3 CL E G H58819803OMIM:618577NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF1
HP:0001249HP:0001249Intellectual disability0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent25
HP:0001249HP:0001249Intellectual disability0RAD50 CL E G H101119816OMIM:613078NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD789
HP:0001249HP:0001249Intellectual disability0RAD51 CL E G H58889817ORPHA:238722Familial congenital mirror movements9
HP:0001249HP:0001249Intellectual disability0RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040282 - Frequent9
HP:0001249HP:0001249Intellectual disability0RAD51 CL E G H58889817OMIM:617244Fanconi anemia, complementation group R.9
HP:0001249HP:0001249Intellectual disability0RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040282 - Frequent391
HP:0001249HP:0001249Intellectual disability0RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0001249HP:0001249Intellectual disability0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentigines212
HP:0001249HP:0001249Intellectual disability0RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndrome150
HP:0001249HP:0001249Intellectual disability0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome.150
HP:0001249HP:0001249Intellectual disability0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0001249HP:0001249Intellectual disability0RALA CL E G H58989839OMIM:619311HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0001249HP:0001249Intellectual disability0RANBP2 CL E G H59039848ORPHA:88619Familial acute necrotizing encephalopathyHP:0040282 - Frequent57
HP:0001249HP:0001249Intellectual disability0RARB CL E G H59159865ORPHA:2470Matthew-Wood syndromeHP:0040281 - Very frequent9
HP:0001249HP:0001249Intellectual disability0RARB CL E G H59159865OMIM:615524Microphthalmia, syndromic 12HP:0040283 - Occasional9
HP:0001249HP:0001249Intellectual disability0RARS1 CL E G H59179870OMIM:616140Leukodystrophy, hypomyelinating, 9.
HP:0001249HP:0001249Intellectual disability0RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0001249HP:0001249Intellectual disability0RB1 CL E G H59259884ORPHA:1587Monosomy 13q14HP:0040281 - Very frequent365
HP:0001249HP:0001249Intellectual disability0RBBP8 CL E G H59329891OMIM:251255Jawad syndrome68
HP:0001249HP:0001249Intellectual disability0RBBP8 CL E G H59329891ORPHA:808Seckel syndromeHP:0040281 - Very frequent68
HP:0001249HP:0001249Intellectual disability0RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040282 - Frequent16
HP:0001249HP:0001249Intellectual disability0RBM28 CL E G H5513121863OMIM:612079Alopecia, neurologic defects, and endocrinopathy syndrome.1
HP:0001249HP:0001249Intellectual disability0RBM28 CL E G H5513121863ORPHA:157954ANE syndromeHP:0040282 - Frequent1
HP:0001249HP:0001249Intellectual disability0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome.10
HP:0001249HP:0001249Intellectual disability0RBMX CL E G H273169910OMIM:300238MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS112
HP:0001249HP:0001249Intellectual disability0RBP3 CL E G H59499921ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent108
HP:0001249HP:0001249Intellectual disability0RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional3
HP:0001249HP:0001249Intellectual disability0RBPJ CL E G H35165724OMIM:614814Adams-Oliver syndrome 33
HP:0001249HP:0001249Intellectual disability0RCBTB1 CL E G H5521318243OMIM:617175RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA8
HP:0001249HP:0001249Intellectual disability0RD3 CL E G H34303519689ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional95
HP:0001249HP:0001249Intellectual disability0RDH11 CL E G H5110917964ORPHA:436245Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome2
HP:0001249HP:0001249Intellectual disability0RDH12 CL E G H14522619977ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional45
HP:0001249HP:0001249Intellectual disability0RDH12 CL E G H14522619977ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent45
HP:0001249HP:0001249Intellectual disability0RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome.445
HP:0001249HP:0001249Intellectual disability0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0001249HP:0001249Intellectual disability0REEP6 CL E G H9284030078ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent5
HP:0001249HP:0001249Intellectual disability0RELN CL E G H56499957ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040281 - Very frequent334
HP:0001249HP:0001249Intellectual disability0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent16
HP:0001249HP:0001249Intellectual disability0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040282 - Frequent16
HP:0001249HP:0001249Intellectual disability0RET CL E G H59799967ORPHA:99803Haddad syndromeHP:0040282 - Frequent572
HP:0001249HP:0001249Intellectual disability0RET CL E G H59799967ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional572
HP:0001249HP:0001249Intellectual disability0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0RFT1 CL E G H9186930220OMIM:612015Congenital disorder of glycosylation, type IN.92
HP:0001249HP:0001249Intellectual disability0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0RGR CL E G H59959990ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent28
HP:0001249HP:0001249Intellectual disability0RHO CL E G H601010012ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent107
HP:0001249HP:0001249Intellectual disability0RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 64.1
HP:0001249HP:0001249Intellectual disability0RIC1 CL E G H5758917686OMIM:618761CATIFA SYNDROME; CATIFA
HP:0001249HP:0001249Intellectual disability0RIPK4 CL E G H54101496ORPHA:1234Bartsocas-Papas syndromeHP:0040282 - Frequent69
HP:0001249HP:0001249Intellectual disability0RIPPLY2 CL E G H13470121390ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional3
HP:0001249HP:0001249Intellectual disability0RIT1 CL E G H601610023OMIM:615355NOONAN SYNDROME 8; NS839
HP:0001249HP:0001249Intellectual disability0RLBP1 CL E G H601710024ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0001249HP:0001249Intellectual disability0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0001249HP:0001249Intellectual disability0RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia.37
HP:0001249HP:0001249Intellectual disability0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndrome33
HP:0001249HP:0001249Intellectual disability0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndrome34
HP:0001249HP:0001249Intellectual disability0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndrome60
HP:0001249HP:0001249Intellectual disability0RNF113A CL E G H773712974OMIM:300953Trichothiodystrophy 5, nonphotosensitive.3
HP:0001249HP:0001249Intellectual disability0RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome.5
HP:0001249HP:0001249Intellectual disability0RNF13 CL E G H1134210057OMIM:618379DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0001249HP:0001249Intellectual disability0RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathy
HP:0001249HP:0001249Intellectual disability0RNF135 CL E G H8428221158ORPHA:137634Overgrowth-macrocephaly-facial dysmorphism syndrome11
HP:0001249HP:0001249Intellectual disability0RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0001249HP:0001249Intellectual disability0RNF213 CL E G H5767414539ORPHA:2573Moyamoya diseaseHP:0040282 - Frequent14
HP:0001249HP:0001249Intellectual disability0RNF220 CL E G H5518225552OMIM:619688LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD231
HP:0001249HP:0001249Intellectual disability0RNU4ATAC CL E G H10015168334016OMIM:226960EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS15
HP:0001249HP:0001249Intellectual disability0RNU4ATAC CL E G H10015168334016ORPHA:1824Lowry-Wood syndromeHP:0040282 - Frequent15
HP:0001249HP:0001249Intellectual disability0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040281 - Very frequent15
HP:0001249HP:0001249Intellectual disability0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0001249HP:0001249Intellectual disability0RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0001249HP:0001249Intellectual disability0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndrome15
HP:0001249HP:0001249Intellectual disability0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndrome
HP:0001249HP:0001249Intellectual disability0ROBO1 CL E G H609110249ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional7
HP:0001249HP:0001249Intellectual disability0ROGDI CL E G H7964129478ORPHA:1946Amelocerebrohypohidrotic syndrome57
HP:0001249HP:0001249Intellectual disability0ROGDI CL E G H7964129478OMIM:226750Kohlschutter-Tonz syndrome.57
HP:0001249HP:0001249Intellectual disability0ROM1 CL E G H609410254ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent38
HP:0001249HP:0001249Intellectual disability0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional120
HP:0001249HP:0001249Intellectual disability0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0001249HP:0001249Intellectual disability0RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0001249HP:0001249Intellectual disability0RP1 CL E G H610110263ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent111
HP:0001249HP:0001249Intellectual disability0RP1L1 CL E G H9413715946ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent284
HP:0001249HP:0001249Intellectual disability0RP2 CL E G H610210274ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent45
HP:0001249HP:0001249Intellectual disability0RP9 CL E G H610010288ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent14
HP:0001249HP:0001249Intellectual disability0RPE65 CL E G H612110294ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional129
HP:0001249HP:0001249Intellectual disability0RPE65 CL E G H612110294OMIM:204100Leber congenital amaurosis, type II.129
HP:0001249HP:0001249Intellectual disability0RPE65 CL E G H612110294ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent129
HP:0001249HP:0001249Intellectual disability0RPGR CL E G H610310295ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent200
HP:0001249HP:0001249Intellectual disability0RPGRIP1 CL E G H5709613436ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional109
HP:0001249HP:0001249Intellectual disability0RPGRIP1L CL E G H2332229168OMIM:611560Joubert syndrome 7.167
HP:0001249HP:0001249Intellectual disability0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defect167
HP:0001249HP:0001249Intellectual disability0RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defectHP:0040281 - Very frequent167
HP:0001249HP:0001249Intellectual disability0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0001249HP:0001249Intellectual disability0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome10
HP:0001249HP:0001249Intellectual disability0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0001249HP:0001249Intellectual disability0RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome.65
HP:0001249HP:0001249Intellectual disability0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040281 - Very frequent65
HP:0001249HP:0001249Intellectual disability0RPS6KA3 CL E G H619710432OMIM:300844MENTAL RETARDATION, X-LINKED 19; MRX1965
HP:0001249HP:0001249Intellectual disability0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001249HP:0001249Intellectual disability0RRM2B CL E G H5048417296OMIM:612075Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy).125
HP:0001249HP:0001249Intellectual disability0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional125
HP:0001249HP:0001249Intellectual disability0RRP7A CL E G H2734124286OMIM:619453MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE; MCPH28
HP:0001249HP:0001249Intellectual disability0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0001249HP:0001249Intellectual disability0RSPRY1 CL E G H8997029420OMIM:616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type.2
HP:0001249HP:0001249Intellectual disability0RSRC1 CL E G H5131924152OMIM:618402Intellectual developmental disorder, autosomal recessive 70.2
HP:0001249HP:0001249Intellectual disability0RTEL1 CL E G H5175015888ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent77
HP:0001249HP:0001249Intellectual disability0RTL1 CL E G H38801514665ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0001249HP:0001249Intellectual disability0RTL1 CL E G H38801514665ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0RTL1 CL E G H38801514665ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional
HP:0001249HP:0001249Intellectual disability0RTL1 CL E G H38801514665ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040283 - Occasional
HP:0001249HP:0001249Intellectual disability0RTN4IP1 CL E G H8481618647OMIM:616732OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA102
HP:0001249HP:0001249Intellectual disability0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiency113
HP:0001249HP:0001249Intellectual disability0RTTN CL E G H2591418654OMIM:614833Microcephaly, short stature, and polymicrogyria with or without seizures113
HP:0001249HP:0001249Intellectual disability0RUBCN CL E G H971128991ORPHA:404499Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiencyHP:0040282 - Frequent9
HP:0001249HP:0001249Intellectual disability0RUBCN CL E G H971128991OMIM:615705SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR159
HP:0001249HP:0001249Intellectual disability0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61.
HP:0001249HP:0001249Intellectual disability0RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathy1200
HP:0001249HP:0001249Intellectual disability0SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type.309
HP:0001249HP:0001249Intellectual disability0SAG CL E G H629510521ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent32
HP:0001249HP:0001249Intellectual disability0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional124
HP:0001249HP:0001249Intellectual disability0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124
HP:0001249HP:0001249Intellectual disability0SAMD12 CL E G H40147431750ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040283 - Occasional2
HP:0001249HP:0001249Intellectual disability0SAMD12 CL E G H40147431750OMIM:601068Epilepsy, familial adult myoclonic, 1HP:0040283 - Occasional2
HP:0001249HP:0001249Intellectual disability0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndrome55
HP:0001249HP:0001249Intellectual disability0SAR1B CL E G H5112810535OMIM:246700Chylomicron retention disease.8
HP:0001249HP:0001249Intellectual disability0SARDH CL E G H175710536ORPHA:3129Sarcosinemia4
HP:0001249HP:0001249Intellectual disability0SARS1 CL E G H630110537OMIM:617709Neurodevelopmental disorder with microcephaly, ataxia, and seizures
HP:0001249HP:0001249Intellectual disability0SASS6 CL E G H16378625403ORPHA:2512Autosomal recessive primary microcephaly4
HP:0001249HP:0001249Intellectual disability0SASS6 CL E G H16378625403OMIM:616402Microcephaly 14, primary, autosomal recessive.4
HP:0001249HP:0001249Intellectual disability0SATB1 CL E G H630410541OMIM:619228DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0001249HP:0001249Intellectual disability0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001249HP:0001249Intellectual disability0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndrome34
HP:0001249HP:0001249Intellectual disability0SATB2 CL E G H2331421637OMIM:612313Glass syndrome.34
HP:0001249HP:0001249Intellectual disability0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0001249HP:0001249Intellectual disability0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040281 - Very frequent34
HP:0001249HP:0001249Intellectual disability0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional26
HP:0001249HP:0001249Intellectual disability0SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 126
HP:0001249HP:0001249Intellectual disability0SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0001249HP:0001249Intellectual disability0SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0SCAPER CL E G H4985513081OMIM:618195Intellectual developmental disorder and retinitis pigmentosa.
HP:0001249HP:0001249Intellectual disability0SCAPER CL E G H4985513081ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0SCARB2 CL E G H9501665ORPHA:308Progressive myoclonic epilepsy type 1HP:0040283 - Occasional77
HP:0001249HP:0001249Intellectual disability0SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0001249HP:0001249Intellectual disability0SCN1A CL E G H632310585OMIM:607208Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)1053
HP:0001249HP:0001249Intellectual disability0SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040284 - Very rare1053
HP:0001249HP:0001249Intellectual disability0SCN1A CL E G H632310585ORPHA:2382Lennox-Gastaut syndromeHP:0040281 - Very frequent1053
HP:0001249HP:0001249Intellectual disability0SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent1053
HP:0001249HP:0001249Intellectual disability0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent126
HP:0001249HP:0001249Intellectual disability0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent427
HP:0001249HP:0001249Intellectual disability0SCN3A CL E G H632810590OMIM:617935Epilepsy, familial focal, with variable foci 470
HP:0001249HP:0001249Intellectual disability0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent70
HP:0001249HP:0001249Intellectual disability0SCN4A CL E G H632910591ORPHA:99735Myotonia permanensHP:0040283 - Occasional263
HP:0001249HP:0001249Intellectual disability0SCN8A CL E G H633410596OMIM:614306Cognitive impairment with or without cerebellar ataxiaHP:0040283 - Occasional357
HP:0001249HP:0001249Intellectual disability0SCN8A CL E G H633410596OMIM:614558Epileptic encephalopathy, early infantile, 13.357
HP:0001249HP:0001249Intellectual disability0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent357
HP:0001249HP:0001249Intellectual disability0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent40
HP:0001249HP:0001249Intellectual disability0SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0001249HP:0001249Intellectual disability0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0001249HP:0001249Intellectual disability0SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 215
HP:0001249HP:0001249Intellectual disability0SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent61
HP:0001249HP:0001249Intellectual disability0SDCCAG8 CL E G H1080610671OMIM:615993Bardet-Biedl syndrome 16.61
HP:0001249HP:0001249Intellectual disability0SDCCAG8 CL E G H1080610671OMIM:613615SENIOR-LOKEN SYNDROME 7; SLSN761
HP:0001249HP:0001249Intellectual disability0SDHA CL E G H638910680ORPHA:255241Leigh syndrome with leukodystrophy304
HP:0001249HP:0001249Intellectual disability0SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040282 - Frequent237
HP:0001249HP:0001249Intellectual disability0SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040282 - Frequent147
HP:0001249HP:0001249Intellectual disability0SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040282 - Frequent129
HP:0001249HP:0001249Intellectual disability0SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040282 - Frequent60
HP:0001249HP:0001249Intellectual disability0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001249HP:0001249Intellectual disability0SECISBP2 CL E G H7904830972ORPHA:171706Short stature-delayed bone age due to thyroid hormone metabolism deficiency3
HP:0001249HP:0001249Intellectual disability0SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0001249HP:0001249Intellectual disability0SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0001249HP:0001249Intellectual disability0SEMA3C CL E G H1051210725ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional1
HP:0001249HP:0001249Intellectual disability0SEMA3D CL E G H22311710726ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional2
HP:0001249HP:0001249Intellectual disability0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040282 - Frequent16
HP:0001249HP:0001249Intellectual disability0SEMA4A CL E G H6421810729ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0001249HP:0001249Intellectual disability0SEMA5A CL E G H903710736ORPHA:281Monosomy 5p6
HP:0001249HP:0001249Intellectual disability0SEMA6B CL E G H1050110739OMIM:618876EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0001249HP:0001249Intellectual disability0SEPSECS CL E G H5109130605OMIM:613811Pontocerebellar hypoplasia, type 2D66
HP:0001249HP:0001249Intellectual disability0SERAC1 CL E G H8494721061OMIM:6147393-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome.47
HP:0001249HP:0001249Intellectual disability0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 58.1
HP:0001249HP:0001249Intellectual disability0SETBP1 CL E G H2604015573ORPHA:436151Intellectual disability-expressive aphasia-facial dysmorphism syndrome143
HP:0001249HP:0001249Intellectual disability0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29.143
HP:0001249HP:0001249Intellectual disability0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0001249HP:0001249Intellectual disability0SETD1A CL E G H973929010OMIM:619056NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID6
HP:0001249HP:0001249Intellectual disability0SETD1B CL E G H2306729187OMIM:619000INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0001249HP:0001249Intellectual disability0SETD2 CL E G H2907218420OMIM:616831Luscan-Lumish syndrome.60
HP:0001249HP:0001249Intellectual disability0SETD2 CL E G H2907218420ORPHA:821Sotos syndrome60
HP:0001249HP:0001249Intellectual disability0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040281 - Very frequent43
HP:0001249HP:0001249Intellectual disability0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0001249HP:0001249Intellectual disability0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0001249HP:0001249Intellectual disability0SFXN4 CL E G H11955916088OMIM:615578Combined oxidative phosphorylation deficiency 18.17
HP:0001249HP:0001249Intellectual disability0SGSH CL E G H644810818OMIM:252900Mucopolysaccharidosis type IIIA.97
HP:0001249HP:0001249Intellectual disability0SH2B1 CL E G H2597030417ORPHA:261222Distal 16p11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040283 - Occasional53
HP:0001249HP:0001249Intellectual disability0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0001249HP:0001249Intellectual disability0SHANK3 CL E G H8535814294OMIM:613950Schizophrenia 1553
HP:0001249HP:0001249Intellectual disability0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent67
HP:0001249HP:0001249Intellectual disability0SHH CL E G H646910848OMIM:142945Holoprosencephaly 3.67
HP:0001249HP:0001249Intellectual disability0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent67
HP:0001249HP:0001249Intellectual disability0SHH CL E G H646910848ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent67
HP:0001249HP:0001249Intellectual disability0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent67
HP:0001249HP:0001249Intellectual disability0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent67
HP:0001249HP:0001249Intellectual disability0SHH CL E G H646910848ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent67
HP:0001249HP:0001249Intellectual disability0SHH CL E G H646910848OMIM:147250Solitary median maxillary central incisor67
HP:0001249HP:0001249Intellectual disability0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001249HP:0001249Intellectual disability0SHOC2 CL E G H803615454ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040283 - Occasional74
HP:0001249HP:0001249Intellectual disability0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0001249HP:0001249Intellectual disability0SHROOM4 CL E G H5747729215ORPHA:85288X-linked intellectual disability, Stocco Dos Santos type42
HP:0001249HP:0001249Intellectual disability0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent11
HP:0001249HP:0001249Intellectual disability0SIL1 CL E G H6437424624ORPHA:559Marinesco-Sjögren syndromeHP:0040281 - Very frequent67
HP:0001249HP:0001249Intellectual disability0SIL1 CL E G H6437424624OMIM:248800Marinesco-Sjogren syndrome.67
HP:0001249HP:0001249Intellectual disability0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040282 - Frequent40
HP:0001249HP:0001249Intellectual disability0SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndromeHP:0040282 - Frequent9
HP:0001249HP:0001249Intellectual disability0SIN3A CL E G H2594219353ORPHA:500166SIN3A-related intellectual disability syndrome due to a point mutation9
HP:0001249HP:0001249Intellectual disability0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0001249HP:0001249Intellectual disability0SIN3B CL E G H2330919354ORPHA:500166SIN3A-related intellectual disability syndrome due to a point mutation
HP:0001249HP:0001249Intellectual disability0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0001249HP:0001249Intellectual disability0SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 2.32
HP:0001249HP:0001249Intellectual disability0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0001249HP:0001249Intellectual disability0SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent32
HP:0001249HP:0001249Intellectual disability0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0001249HP:0001249Intellectual disability0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0001249HP:0001249Intellectual disability0SIX3 CL E G H649610889ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent32
HP:0001249HP:0001249Intellectual disability0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent150
HP:0001249HP:0001249Intellectual disability0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome.150
HP:0001249HP:0001249Intellectual disability0SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndromeHP:0040281 - Very frequent150
HP:0001249HP:0001249Intellectual disability0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrhea
HP:0001249HP:0001249Intellectual disability0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrhea
HP:0001249HP:0001249Intellectual disability0SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal.75
HP:0001249HP:0001249Intellectual disability0SLC12A2 CL E G H655810911OMIM:619080KILQUIST SYNDROME; KILQS2
HP:0001249HP:0001249Intellectual disability0SLC12A5 CL E G H5746813818OMIM:616645Epileptic encephalopathy, early infantile, 34.8
HP:0001249HP:0001249Intellectual disability0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0001249HP:0001249Intellectual disability0SLC12A6 CL E G H999010914ORPHA:1496Corpus callosum agenesis-neuronopathy syndromeHP:0040281 - Very frequent163
HP:0001249HP:0001249Intellectual disability0SLC13A5 CL E G H28411123089ORPHA:1946Amelocerebrohypohidrotic syndrome73
HP:0001249HP:0001249Intellectual disability0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent73
HP:0001249HP:0001249Intellectual disability0SLC16A1 CL E G H656610922OMIM:616095Monocarboxylate transporter 1 deficiency.74
HP:0001249HP:0001249Intellectual disability0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040281 - Very frequent57
HP:0001249HP:0001249Intellectual disability0SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome57
HP:0001249HP:0001249Intellectual disability0SLC17A5 CL E G H2650310933OMIM:604369Salla disease.78
HP:0001249HP:0001249Intellectual disability0SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 22
HP:0001249HP:0001249Intellectual disability0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0001249HP:0001249Intellectual disability0SLC19A3 CL E G H8070416266ORPHA:255241Leigh syndrome with leukodystrophy110
HP:0001249HP:0001249Intellectual disability0SLC1A1 CL E G H650510939OMIM:222730Dicarboxylicamino aciduria.71
HP:0001249HP:0001249Intellectual disability0SLC1A2 CL E G H650610940OMIM:617105Epileptic encephalopathy, early infantile, 413
HP:0001249HP:0001249Intellectual disability0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0001249HP:0001249Intellectual disability0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent63
HP:0001249HP:0001249Intellectual disability0SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly.4
HP:0001249HP:0001249Intellectual disability0SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040281 - Very frequent4
HP:0001249HP:0001249Intellectual disability0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent28
HP:0001249HP:0001249Intellectual disability0SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndromeHP:0040282 - Frequent88
HP:0001249HP:0001249Intellectual disability0SLC25A15 CL E G H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeHP:0040282 - Frequent88
HP:0001249HP:0001249Intellectual disability0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent166
HP:0001249HP:0001249Intellectual disability0SLC25A24 CL E G H2995720662ORPHA:2095Gorlin-Chaudhry-Moss syndrome
HP:0001249HP:0001249Intellectual disability0SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0001249HP:0001249Intellectual disability0SLC26A4 CL E G H51728818ORPHA:95713Athyreosis274
HP:0001249HP:0001249Intellectual disability0SLC26A4 CL E G H51728818OMIM:274600Pendred syndrome.274
HP:0001249HP:0001249Intellectual disability0SLC26A4 CL E G H51728818ORPHA:705Pendred syndromeHP:0040283 - Occasional274
HP:0001249HP:0001249Intellectual disability0SLC26A4 CL E G H51728818ORPHA:95720Thyroid hypoplasia274
HP:0001249HP:0001249Intellectual disability0SLC29A3 CL E G H5531523096ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent68
HP:0001249HP:0001249Intellectual disability0SLC29A3 CL E G H5531523096ORPHA:168569H syndrome68
HP:0001249HP:0001249Intellectual disability0SLC2A1 CL E G H651311005ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional255
HP:0001249HP:0001249Intellectual disability0SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndromeHP:0040282 - Frequent255
HP:0001249HP:0001249Intellectual disability0SLC2A1 CL E G H651311005OMIM:614847Epilepsy, idiopathic generalized, susceptibility to, 12HP:0040283 - Occasional255
HP:0001249HP:0001249Intellectual disability0SLC2A1 CL E G H651311005OMIM:606777Glut1 deficiency syndrome 1.255
HP:0001249HP:0001249Intellectual disability0SLC2A1 CL E G H651311005ORPHA:168577Hereditary cryohydrocytosis with reduced stomatinHP:0040282 - Frequent255
HP:0001249HP:0001249Intellectual disability0SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent255
HP:0001249HP:0001249Intellectual disability0SLC2A1 CL E G H651311005ORPHA:53583Paroxysmal dystonic choreathetosis with episodic ataxia and spasticityHP:0040282 - Frequent255
HP:0001249HP:0001249Intellectual disability0SLC2A1 CL E G H651311005ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040282 - Frequent255
HP:0001249HP:0001249Intellectual disability0SLC2A1 CL E G H651311005OMIM:608885Stomatin-Deficient cryohydrocytosis with neurologic defects.255
HP:0001249HP:0001249Intellectual disability0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040283 - Occasional178
HP:0001249HP:0001249Intellectual disability0SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndromeHP:0040283 - Occasional178
HP:0001249HP:0001249Intellectual disability0SLC35A1 CL E G H1055911021OMIM:603585Congenital disorder of glycosylation, type IIf.24
HP:0001249HP:0001249Intellectual disability0SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:0001249HP:0001249Intellectual disability0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040281 - Very frequent27
HP:0001249HP:0001249Intellectual disability0SLC35A3 CL E G H2344311023OMIM:615553Arthrogryposis, mental retardation, and seizures.2
HP:0001249HP:0001249Intellectual disability0SLC35A3 CL E G H2344311023ORPHA:370943Autism spectrum disorder-epilepsy-arthrogryposis syndrome2
HP:0001249HP:0001249Intellectual disability0SLC35C1 CL E G H5534320197OMIM:266265Congenital disorder of glycosylation, type IIc71
HP:0001249HP:0001249Intellectual disability0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type II71
HP:0001249HP:0001249Intellectual disability0SLC36A2 CL E G H15320118762OMIM:242600IMINOGLYCINURIA.2
HP:0001249HP:0001249Intellectual disability0SLC38A3 CL E G H1099118044OMIM:619881
HP:0001249HP:0001249Intellectual disability0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndromeHP:0040282 - Frequent5
HP:0001249HP:0001249Intellectual disability0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 2.5
HP:0001249HP:0001249Intellectual disability0SLC39A8 CL E G H6411620862OMIM:616721Congenital disorder of glycosylation, type IIN.11
HP:0001249HP:0001249Intellectual disability0SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDG11
HP:0001249HP:0001249Intellectual disability0SLC3A1 CL E G H651911025ORPHA:1636932p21 microdeletion syndrome55
HP:0001249HP:0001249Intellectual disability0SLC45A1 CL E G H5065117939OMIM:617532Intellectual developmental disorder with neuropsychiatric features2
HP:0001249HP:0001249Intellectual disability0SLC46A1 CL E G H11323530521OMIM:229050Folate malabsorption, hereditary.101
HP:0001249HP:0001249Intellectual disability0SLC4A4 CL E G H867111030OMIM:604278Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation.89
HP:0001249HP:0001249Intellectual disability0SLC5A5 CL E G H652811040ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional59
HP:0001249HP:0001249Intellectual disability0SLC5A5 CL E G H652811040OMIM:274400Thyroid hormonogenesis, genetic defect in, 1.59
HP:0001249HP:0001249Intellectual disability0SLC5A7 CL E G H6048214025OMIM:617143Myasthenic syndrome, congenital, 20, presynaptic9
HP:0001249HP:0001249Intellectual disability0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent9
HP:0001249HP:0001249Intellectual disability0SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent29
HP:0001249HP:0001249Intellectual disability0SLC6A1 CL E G H652911042OMIM:616421Myoclonic-Atonic epilepsy.29
HP:0001249HP:0001249Intellectual disability0SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 48.12
HP:0001249HP:0001249Intellectual disability0SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome12
HP:0001249HP:0001249Intellectual disability0SLC6A19 CL E G H34002427960ORPHA:2116Hartnup diseaseHP:0040283 - Occasional12
HP:0001249HP:0001249Intellectual disability0SLC6A19 CL E G H34002427960OMIM:242600IMINOGLYCINURIA.12
HP:0001249HP:0001249Intellectual disability0SLC6A20 CL E G H5471630927OMIM:242600IMINOGLYCINURIA.96
HP:0001249HP:0001249Intellectual disability0SLC6A5 CL E G H915211051ORPHA:3197Hereditary hyperekplexiaHP:0040283 - Occasional81
HP:0001249HP:0001249Intellectual disability0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0001249HP:0001249Intellectual disability0SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiencyHP:0040281 - Very frequent122
HP:0001249HP:0001249Intellectual disability0SLC7A14 CL E G H5770929326ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0001249HP:0001249Intellectual disability0SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intoleranceHP:0040282 - Frequent104
HP:0001249HP:0001249Intellectual disability0SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndrome93
HP:0001249HP:0001249Intellectual disability0SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type93
HP:0001249HP:0001249Intellectual disability0SLITRK6 CL E G H8418923503OMIM:221200Deafness and myopia.4
HP:0001249HP:0001249Intellectual disability0SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040282 - Frequent274
HP:0001249HP:0001249Intellectual disability0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome.504
HP:0001249HP:0001249Intellectual disability0SMAD4 CL E G H40896770ORPHA:2588Myhre syndromeHP:0040281 - Very frequent504
HP:0001249HP:0001249Intellectual disability0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0001249HP:0001249Intellectual disability0SMARCA2 CL E G H659511098ORPHA:2728Blepharophimosis-intellectual disability syndrome, Ohdo type146
HP:0001249HP:0001249Intellectual disability0SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndromeHP:0040281 - Very frequent146
HP:0001249HP:0001249Intellectual disability0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome.146
HP:0001249HP:0001249Intellectual disability0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndrome617
HP:0001249HP:0001249Intellectual disability0SMARCA4 CL E G H659711100OMIM:614609Coffin-Siris syndrome 4.617
HP:0001249HP:0001249Intellectual disability0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndrome87
HP:0001249HP:0001249Intellectual disability0SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 3.87
HP:0001249HP:0001249Intellectual disability0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndrome1
HP:0001249HP:0001249Intellectual disability0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndrome
HP:0001249HP:0001249Intellectual disability0SMARCD1 CL E G H660211106OMIM:618779COFFIN-SIRIS SYNDROME 11; CSS11
HP:0001249HP:0001249Intellectual disability0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndrome47
HP:0001249HP:0001249Intellectual disability0SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0001249HP:0001249Intellectual disability0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent135
HP:0001249HP:0001249Intellectual disability0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent135
HP:0001249HP:0001249Intellectual disability0SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2135
HP:0001249HP:0001249Intellectual disability0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent135
HP:0001249HP:0001249Intellectual disability0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent91
HP:0001249HP:0001249Intellectual disability0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0001249HP:0001249Intellectual disability0SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndrome174
HP:0001249HP:0001249Intellectual disability0SMG9 CL E G H5600625763OMIM:6199952
HP:0001249HP:0001249Intellectual disability0SMO CL E G H660811119ORPHA:1553Curry-Jones syndromeHP:0040282 - Frequent22
HP:0001249HP:0001249Intellectual disability0SMO CL E G H660811119ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional22
HP:0001249HP:0001249Intellectual disability0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomalies15
HP:0001249HP:0001249Intellectual disability0SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies.15
HP:0001249HP:0001249Intellectual disability0SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type BHP:0040284 - Very rare164
HP:0001249HP:0001249Intellectual disability0SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A.164
HP:0001249HP:0001249Intellectual disability0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type.19
HP:0001249HP:0001249Intellectual disability0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder type19
HP:0001249HP:0001249Intellectual disability0SNAI2 CL E G H659111094ORPHA:2884PiebaldismHP:0040283 - Occasional19
HP:0001249HP:0001249Intellectual disability0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0001249HP:0001249Intellectual disability0SNAP29 CL E G H934211133ORPHA:66631CEDNIK syndromeHP:0040281 - Very frequent94
HP:0001249HP:0001249Intellectual disability0SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome94
HP:0001249HP:0001249Intellectual disability0SNRNP200 CL E G H2302030859ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent83
HP:0001249HP:0001249Intellectual disability0SNRPB CL E G H662811153ORPHA:1393Cerebrocostomandibular syndromeHP:0040282 - Frequent6
HP:0001249HP:0001249Intellectual disability0SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome6
HP:0001249HP:0001249Intellectual disability0SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0001249HP:0001249Intellectual disability0SNRPN CL E G H663811164OMIM:209850Autism susceptibility 1.37
HP:0001249HP:0001249Intellectual disability0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1537
HP:0001249HP:0001249Intellectual disability0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 137
HP:0001249HP:0001249Intellectual disability0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 237
HP:0001249HP:0001249Intellectual disability0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0001249HP:0001249Intellectual disability0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome14
HP:0001249HP:0001249Intellectual disability0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 2014
HP:0001249HP:0001249Intellectual disability0SOBP CL E G H5508429256OMIM:613671Mental retardation, anterior maxillary protrusion, and strabismus29
HP:0001249HP:0001249Intellectual disability0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040280 - Obligate12
HP:0001249HP:0001249Intellectual disability0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0001249HP:0001249Intellectual disability0SORL1 CL E G H665311185ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional3
HP:0001249HP:0001249Intellectual disability0SOS1 CL E G H665411187OMIM:610733Noonan syndrome 4315
HP:0001249HP:0001249Intellectual disability0SOST CL E G H5096413771ORPHA:1513Craniodiaphyseal dysplasiaHP:0040281 - Very frequent26
HP:0001249HP:0001249Intellectual disability0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease.61
HP:0001249HP:0001249Intellectual disability0SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung diseaseHP:0040281 - Very frequent61
HP:0001249HP:0001249Intellectual disability0SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E.61
HP:0001249HP:0001249Intellectual disability0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndrome14
HP:0001249HP:0001249Intellectual disability0SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 27.14
HP:0001249HP:0001249Intellectual disability0SOX2 CL E G H665711195ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndromeHP:0040283 - Occasional33
HP:0001249HP:0001249Intellectual disability0SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional33
HP:0001249HP:0001249Intellectual disability0SOX3 CL E G H665811199OMIM:300123Mental retardation, X-linked, with isolated growth hormone deficiency24
HP:0001249HP:0001249Intellectual disability0SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional24
HP:0001249HP:0001249Intellectual disability0SOX3 CL E G H665811199ORPHA:67045X-linked intellectual disability with isolated growth hormone deficiencyHP:0040281 - Very frequent24
HP:0001249HP:0001249Intellectual disability0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndrome
HP:0001249HP:0001249Intellectual disability0SOX4 CL E G H665911200OMIM:618506Coffin-Siris syndrome 10.
HP:0001249HP:0001249Intellectual disability0SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiencyHP:0040280 - Obligate11
HP:0001249HP:0001249Intellectual disability0SOX5 CL E G H666011201OMIM:616803Lamb-Shaffer syndrome.11
HP:0001249HP:0001249Intellectual disability0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0001249HP:0001249Intellectual disability0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive66
HP:0001249HP:0001249Intellectual disability0SPAST CL E G H668311233ORPHA:100985Autosomal dominant spastic paraplegia type 4HP:0040284 - Very rare208
HP:0001249HP:0001249Intellectual disability0SPAST CL E G H668311233OMIM:182601Spastic paraplegia 4, autosomal dominant.208
HP:0001249HP:0001249Intellectual disability0SPATA5 CL E G H16637818119OMIM:616577Epilepsy, hearing loss, and mental retardation syndrome.19
HP:0001249HP:0001249Intellectual disability0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome19
HP:0001249HP:0001249Intellectual disability0SPATA5L1 CL E G H7902928762OMIM:619616NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0001249HP:0001249Intellectual disability0SPATA7 CL E G H5581220423ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional48
HP:0001249HP:0001249Intellectual disability0SPATA7 CL E G H5581220423ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0001249HP:0001249Intellectual disability0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathy20
HP:0001249HP:0001249Intellectual disability0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent4
HP:0001249HP:0001249Intellectual disability0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0001249HP:0001249Intellectual disability0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11287
HP:0001249HP:0001249Intellectual disability0SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive.HP:0003584 - Late onset287
HP:0001249HP:0001249Intellectual disability0SPINK5 CL E G H1100515464ORPHA:634Netherton syndromeHP:0040282 - Frequent100
HP:0001249HP:0001249Intellectual disability0SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0001249HP:0001249Intellectual disability0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0001249HP:0001249Intellectual disability0SPR CL E G H669711257ORPHA:70594Dopa-responsive dystonia due to sepiapterin reductase deficiencyHP:0040282 - Frequent28
HP:0001249HP:0001249Intellectual disability0SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency.28
HP:0001249HP:0001249Intellectual disability0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0001249HP:0001249Intellectual disability0SPTAN1 CL E G H670911273OMIM:613477Epileptic encephalopathy, early infantile, 5416
HP:0001249HP:0001249Intellectual disability0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001249HP:0001249Intellectual disability0SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxia126
HP:0001249HP:0001249Intellectual disability0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0001249HP:0001249Intellectual disability0SRCAP CL E G H1084716974OMIM:619595DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA138
HP:0001249HP:0001249Intellectual disability0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndrome138
HP:0001249HP:0001249Intellectual disability0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0001249HP:0001249Intellectual disability0SRD5A3 CL E G H7964425812OMIM:612379Congenital disorder of glycosylation, type IQ.80
HP:0001249HP:0001249Intellectual disability0SRD5A3 CL E G H7964425812OMIM:612713Kahrizi syndrome80
HP:0001249HP:0001249Intellectual disability0SRD5A3 CL E G H7964425812ORPHA:324737SRD5A3-CDGHP:0040281 - Very frequent80
HP:0001249HP:0001249Intellectual disability0SREBF1 CL E G H672011289ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional1
HP:0001249HP:0001249Intellectual disability0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional
HP:0001249HP:0001249Intellectual disability0SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1
HP:0001249HP:0001249Intellectual disability0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040282 - Frequent50
HP:0001249HP:0001249Intellectual disability0SRPX2 CL E G H2728630668ORPHA:1945Rolandic epilepsy50
HP:0001249HP:0001249Intellectual disability0SRPX2 CL E G H2728630668OMIM:300643Rolandic epilepsy, mental retardation, and speech dyspraxia50
HP:0001249HP:0001249Intellectual disability0SRPX2 CL E G H2728630668ORPHA:163721Rolandic epilepsy-speech dyspraxia syndromeHP:0040282 - Frequent50
HP:0001249HP:0001249Intellectual disability0SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesis23
HP:0001249HP:0001249Intellectual disability0SSR4 CL E G H674811326OMIM:300934Congenital disorder of glycosylation, type Iy12
HP:0001249HP:0001249Intellectual disability0SSR4 CL E G H674811326ORPHA:370927SSR4-CDGHP:0040280 - Obligate12
HP:0001249HP:0001249Intellectual disability0ST3GAL3 CL E G H648710866OMIM:615006Epileptic encephalopathy, early infantile, 1541
HP:0001249HP:0001249Intellectual disability0ST3GAL3 CL E G H648710866OMIM:611090Mental retardation, autosomal recessive 12.41
HP:0001249HP:0001249Intellectual disability0STAC3 CL E G H24632928423OMIM:255995Myopathy, congenital, bailey-blochHP:0040283 - Occasional14
HP:0001249HP:0001249Intellectual disability0STAC3 CL E G H24632928423ORPHA:168572Native American myopathy14
HP:0001249HP:0001249Intellectual disability0STAG1 CL E G H1027411354OMIM:617635Mental retardation, autosomal dominant 47.9
HP:0001249HP:0001249Intellectual disability0STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeHP:0040281 - Very frequent9
HP:0001249HP:0001249Intellectual disability0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0001249HP:0001249Intellectual disability0STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0001249HP:0001249Intellectual disability0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0001249HP:0001249Intellectual disability0STAG2 CL E G H1073511355ORPHA:521258Xq25 microduplication syndrome1
HP:0001249HP:0001249Intellectual disability0STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare45
HP:0001249HP:0001249Intellectual disability0STARD7 CL E G H5691018063OMIM:607876Epilepsy, familial adult myoclonic, 2
HP:0001249HP:0001249Intellectual disability0STAT3 CL E G H677411364ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent110
HP:0001249HP:0001249Intellectual disability0STEEP1 CL E G H6393226239OMIM:301013MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0001249HP:0001249Intellectual disability0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent99
HP:0001249HP:0001249Intellectual disability0STIL CL E G H649110879ORPHA:2512Autosomal recessive primary microcephaly99
HP:0001249HP:0001249Intellectual disability0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent99
HP:0001249HP:0001249Intellectual disability0STIL CL E G H649110879OMIM:612703Microcephaly 7, primary, autosomal recessive.99
HP:0001249HP:0001249Intellectual disability0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent99
HP:0001249HP:0001249Intellectual disability0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent99
HP:0001249HP:0001249Intellectual disability0STIL CL E G H649110879ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent99
HP:0001249HP:0001249Intellectual disability0STRA6 CL E G H6422030650ORPHA:2470Matthew-Wood syndromeHP:0040281 - Very frequent71
HP:0001249HP:0001249Intellectual disability0STRA6 CL E G H6422030650OMIM:601186Microphthalmia, syndromic 971
HP:0001249HP:0001249Intellectual disability0STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy.6
HP:0001249HP:0001249Intellectual disability0STS CL E G H41211425OMIM:308100Ichthyosis, X-linked19
HP:0001249HP:0001249Intellectual disability0STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosisHP:0040282 - Frequent19
HP:0001249HP:0001249Intellectual disability0STT3A CL E G H37036172OMIM:615596Congenital disorder of glycosylation, type Iw.21
HP:0001249HP:0001249Intellectual disability0STT3A CL E G H37036172OMIM:619714CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD21
HP:0001249HP:0001249Intellectual disability0STT3A CL E G H37036172ORPHA:370921STT3A-CDGHP:0040280 - Obligate21
HP:0001249HP:0001249Intellectual disability0STT3B CL E G H20159530611OMIM:615597Congenital disorder of glycosylation, type Ix.18
HP:0001249HP:0001249Intellectual disability0STT3B CL E G H20159530611ORPHA:370924STT3B-CDGHP:0040280 - Obligate18
HP:0001249HP:0001249Intellectual disability0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndrome237
HP:0001249HP:0001249Intellectual disability0STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4237
HP:0001249HP:0001249Intellectual disability0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)66
HP:0001249HP:0001249Intellectual disability0SUCLA2 CL E G H880311448ORPHA:1933Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria66
HP:0001249HP:0001249Intellectual disability0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040282 - Frequent60
HP:0001249HP:0001249Intellectual disability0SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0001249HP:0001249Intellectual disability0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndromeHP:0040283 - Occasional124
HP:0001249HP:0001249Intellectual disability0SUFU CL E G H5168416466ORPHA:377Gorlin syndromeHP:0040283 - Occasional124
HP:0001249HP:0001249Intellectual disability0SUFU CL E G H5168416466ORPHA:475Joubert syndromeHP:0040281 - Very frequent124
HP:0001249HP:0001249Intellectual disability0SUFU CL E G H5168416466OMIM:617757Joubert syndrome 32124
HP:0001249HP:0001249Intellectual disability0SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent124
HP:0001249HP:0001249Intellectual disability0SUMF1 CL E G H28536220376OMIM:272200Multiple sulfatase deficiency.80
HP:0001249HP:0001249Intellectual disability0SUMF1 CL E G H28536220376ORPHA:585Multiple sulfatase deficiencyHP:0040281 - Very frequent80
HP:0001249HP:0001249Intellectual disability0SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA40
HP:0001249HP:0001249Intellectual disability0SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0001249HP:0001249Intellectual disability0SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent73
HP:0001249HP:0001249Intellectual disability0SURF1 CL E G H683411474ORPHA:255241Leigh syndrome with leukodystrophy73
HP:0001249HP:0001249Intellectual disability0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency.73
HP:0001249HP:0001249Intellectual disability0SUZ12 CL E G H2351217101OMIM:618786IMAGAWA-MATSUMOTO SYNDROME; IMMAS1
HP:0001249HP:0001249Intellectual disability0SUZ12 CL E G H2351217101ORPHA:3447Weaver syndromeHP:0040281 - Very frequent1
HP:0001249HP:0001249Intellectual disability0SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0001249HP:0001249Intellectual disability0SYN1 CL E G H685311494OMIM:300115Mental retardation, X-linked 5058
HP:0001249HP:0001249Intellectual disability0SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce typeHP:0040283 - Occasional1129
HP:0001249HP:0001249Intellectual disability0SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0001249HP:0001249Intellectual disability0SYNGAP1 CL E G H883111497OMIM:612621Mental retardation, autosomal dominant 5.108
HP:0001249HP:0001249Intellectual disability0SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent108
HP:0001249HP:0001249Intellectual disability0SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent108
HP:0001249HP:0001249Intellectual disability0SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040281 - Very frequent108
HP:0001249HP:0001249Intellectual disability0SYNJ1 CL E G H886711503ORPHA:391411Atypical juvenile parkinsonismHP:0040282 - Frequent9
HP:0001249HP:0001249Intellectual disability0SYNJ1 CL E G H886711503OMIM:617389Epileptic encephalopathy, early infantile, 539
HP:0001249HP:0001249Intellectual disability0SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent9
HP:0001249HP:0001249Intellectual disability0SYP CL E G H685511506OMIM:300802MENTAL RETARDATION, X-LINKED 96; MRX9628
HP:0001249HP:0001249Intellectual disability0SYT14 CL E G H25592823143ORPHA:284271Autosomal recessive cerebellar ataxia-psychomotor delay syndromeHP:0040281 - Very frequent4
HP:0001249HP:0001249Intellectual disability0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent4
HP:0001249HP:0001249Intellectual disability0SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent123
HP:0001249HP:0001249Intellectual disability0TAB2 CL E G H2311817075ORPHA:228410Polyvalvular heart disease syndromeHP:0040282 - Frequent11
HP:0001249HP:0001249Intellectual disability0TAC3 CL E G H686611521OMIM:614839Hypogonadotropic hypogonadism 10 with or without anosmia6
HP:0001249HP:0001249Intellectual disability0TACO1 CL E G H5120424316ORPHA:255241Leigh syndrome with leukodystrophy23
HP:0001249HP:0001249Intellectual disability0TACO1 CL E G H5120424316OMIM:619052MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN823
HP:0001249HP:0001249Intellectual disability0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0001249HP:0001249Intellectual disability0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040281 - Very frequent21
HP:0001249HP:0001249Intellectual disability0TAF13 CL E G H688411546ORPHA:2512Autosomal recessive primary microcephaly2
HP:0001249HP:0001249Intellectual disability0TAF13 CL E G H688411546OMIM:617432Mental retardation, autosomal recessive 602
HP:0001249HP:0001249Intellectual disability0TAF2 CL E G H687311536OMIM:615599Mental retardation, autosomal recessive 40.7
HP:0001249HP:0001249Intellectual disability0TAF2 CL E G H687311536ORPHA:397951Microcephaly-thin corpus callosum-intellectual disability syndromeHP:0040282 - Frequent7
HP:0001249HP:0001249Intellectual disability0TAF6 CL E G H687811540OMIM:617126Alazami-Yuan syndrome.5
HP:0001249HP:0001249Intellectual disability0TAF8 CL E G H12968517300OMIM:619972
HP:0001249HP:0001249Intellectual disability0TANC2 CL E G H2611530212OMIM:618906INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0001249HP:0001249Intellectual disability0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration.12
HP:0001249HP:0001249Intellectual disability0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040281 - Very frequent12
HP:0001249HP:0001249Intellectual disability0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001249HP:0001249Intellectual disability0TAT CL E G H689811573OMIM:276600Tyrosine transaminase deficiency.43
HP:0001249HP:0001249Intellectual disability0TAT CL E G H689811573ORPHA:28378Tyrosinemia type 2HP:0040281 - Very frequent43
HP:0001249HP:0001249Intellectual disability0TBC1D20 CL E G H12863716133ORPHA:2510Micro syndrome15
HP:0001249HP:0001249Intellectual disability0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0001249HP:0001249Intellectual disability0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11
HP:0001249HP:0001249Intellectual disability0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0001249HP:0001249Intellectual disability0TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsy271
HP:0001249HP:0001249Intellectual disability0TBC1D24 CL E G H5746529203OMIM:605021Myoclonic epilepsy, familial infantile271
HP:0001249HP:0001249Intellectual disability0TBC1D2B CL E G H2310229183ORPHA:397973Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0001249HP:0001249Intellectual disability0TBC1D2B CL E G H2310229183OMIM:619323NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0001249HP:0001249Intellectual disability0TBC1D7 CL E G H5125621066OMIM:248000Macrocephaly/megalencephaly syndrome, autosomal recessive.4
HP:0001249HP:0001249Intellectual disability0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome16
HP:0001249HP:0001249Intellectual disability0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0001249HP:0001249Intellectual disability0TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndromeHP:0040282 - Frequent52
HP:0001249HP:0001249Intellectual disability0TBCE CL E G H690511582OMIM:617207ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO52
HP:0001249HP:0001249Intellectual disability0TBCE CL E G H690511582OMIM:241410Hypoparathyroidism-Retardation-Dysmorphism syndrome.52
HP:0001249HP:0001249Intellectual disability0TBCE CL E G H690511582ORPHA:2323Sanjad-Sakati syndromeHP:0040281 - Very frequent52
HP:0001249HP:0001249Intellectual disability0TBL1XR1 CL E G H7971829529OMIM:616944Mental retardation, autosomal dominant 4122
HP:0001249HP:0001249Intellectual disability0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome22
HP:0001249HP:0001249Intellectual disability0TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndromeHP:0040281 - Very frequent22
HP:0001249HP:0001249Intellectual disability0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndromeHP:0040281 - Very frequent1
HP:0001249HP:0001249Intellectual disability0TBR1 CL E G H1071611590OMIM:606053Intellectual developmental disorder with autism and speech delay1
HP:0001249HP:0001249Intellectual disability0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0001249HP:0001249Intellectual disability0TBX1 CL E G H689911592ORPHA:172722q11.2 duplication syndromeHP:0040282 - Frequent32
HP:0001249HP:0001249Intellectual disability0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0001249HP:0001249Intellectual disability0TBX1 CL E G H689911592OMIM:192430Velocardiofacial syndrome32
HP:0001249HP:0001249Intellectual disability0TCF12 CL E G H693811623OMIM:619718HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH2628
HP:0001249HP:0001249Intellectual disability0TCF12 CL E G H693811623ORPHA:35099Isolated brachycephalyHP:0040283 - Occasional28
HP:0001249HP:0001249Intellectual disability0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities1
HP:0001249HP:0001249Intellectual disability0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome241
HP:0001249HP:0001249Intellectual disability0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040281 - Very frequent241
HP:0001249HP:0001249Intellectual disability0TCIRG1 CL E G H1031211647ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent82
HP:0001249HP:0001249Intellectual disability0TCN2 CL E G H694811653OMIM:275350Transcobalamin II deficiency.57
HP:0001249HP:0001249Intellectual disability0TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome140
HP:0001249HP:0001249Intellectual disability0TCTN1 CL E G H7960026113ORPHA:475Joubert syndromeHP:0040281 - Very frequent45
HP:0001249HP:0001249Intellectual disability0TCTN2 CL E G H7986725774ORPHA:475Joubert syndromeHP:0040281 - Very frequent76
HP:0001249HP:0001249Intellectual disability0TCTN3 CL E G H2612324519OMIM:614815Joubert syndrome 18.31
HP:0001249HP:0001249Intellectual disability0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040281 - Very frequent31
HP:0001249HP:0001249Intellectual disability0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent31
HP:0001249HP:0001249Intellectual disability0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0001249HP:0001249Intellectual disability0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent1
HP:0001249HP:0001249Intellectual disability0TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent1
HP:0001249HP:0001249Intellectual disability0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent1
HP:0001249HP:0001249Intellectual disability0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0001249HP:0001249Intellectual disability0TDGF1 CL E G H699711701ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent1
HP:0001249HP:0001249Intellectual disability0TDP2 CL E G H5156717768ORPHA:404493Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiencyHP:0040281 - Very frequent3
HP:0001249HP:0001249Intellectual disability0TDP2 CL E G H5156717768OMIM:616949Spinocerebellar ataxia, autosomal recessive 233
HP:0001249HP:0001249Intellectual disability0TECPR2 CL E G H989519957ORPHA:320385Hereditary sensory and autonomic neuropathy due to TECPR2 mutationHP:0040282 - Frequent39
HP:0001249HP:0001249Intellectual disability0TECR CL E G H95244551OMIM:614020Mental retardation, autosomal recessive 14.17
HP:0001249HP:0001249Intellectual disability0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorder12
HP:0001249HP:0001249Intellectual disability0TENM3 CL E G H5571429944OMIM:615145Microphthalmia, isolated, with coloboma 9.12
HP:0001249HP:0001249Intellectual disability0TERT CL E G H701511730ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent238
HP:0001249HP:0001249Intellectual disability0TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0001249HP:0001249Intellectual disability0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0001249HP:0001249Intellectual disability0TFAP2B CL E G H702111743OMIM:169100Char syndrome104
HP:0001249HP:0001249Intellectual disability0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0001249HP:0001249Intellectual disability0TG CL E G H703811764ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional155
HP:0001249HP:0001249Intellectual disability0TG CL E G H703811764OMIM:274700Thyroid hormonogenesis, genetic defect in, 3.155
HP:0001249HP:0001249Intellectual disability0TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0001249HP:0001249Intellectual disability0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0001249HP:0001249Intellectual disability0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0001249HP:0001249Intellectual disability0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0001249HP:0001249Intellectual disability0TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent32
HP:0001249HP:0001249Intellectual disability0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0001249HP:0001249Intellectual disability0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0001249HP:0001249Intellectual disability0TGIF1 CL E G H705011776ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent32
HP:0001249HP:0001249Intellectual disability0TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 3558
HP:0001249HP:0001249Intellectual disability0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystonia80
HP:0001249HP:0001249Intellectual disability0THG1L CL E G H5497426053OMIM:618800SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0001249HP:0001249Intellectual disability0THOC2 CL E G H5718719073OMIM:300957Mental retardation, X-linked 12/355
HP:0001249HP:0001249Intellectual disability0THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndrome5
HP:0001249HP:0001249Intellectual disability0THOC6 CL E G H7922828369OMIM:613680Beaulieu-Boycott-Innes syndrome.1
HP:0001249HP:0001249Intellectual disability0THOC6 CL E G H7922828369ORPHA:363444THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome1
HP:0001249HP:0001249Intellectual disability0THUMPD1 CL E G H5562323807OMIM:619989
HP:0001249HP:0001249Intellectual disability0TIAM1 CL E G H707411805OMIM:6199082
HP:0001249HP:0001249Intellectual disability0TIMM50 CL E G H9260923656ORPHA:5052163-methylglutaconic aciduria type 91
HP:0001249HP:0001249Intellectual disability0TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX1
HP:0001249HP:0001249Intellectual disability0TIMM8A CL E G H167811817OMIM:304700Mohr-Tranebjaerg syndrome15
HP:0001249HP:0001249Intellectual disability0TINF2 CL E G H2627711824ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent60
HP:0001249HP:0001249Intellectual disability0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type)103
HP:0001249HP:0001249Intellectual disability0TKT CL E G H708611834OMIM:617044Short stature, developmental delay, and congenital heart defects.4
HP:0001249HP:0001249Intellectual disability0TKT CL E G H708611834ORPHA:488618Transketolase deficiency4
HP:0001249HP:0001249Intellectual disability0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 57.1
HP:0001249HP:0001249Intellectual disability0TLR3 CL E G H709811849OMIM:613002Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2HP:0040284 - Very rare3
HP:0001249HP:0001249Intellectual disability0TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasiaHP:0040281 - Very frequent6
HP:0001249HP:0001249Intellectual disability0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome.6
HP:0001249HP:0001249Intellectual disability0TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16HP:0040284 - Very rare
HP:0001249HP:0001249Intellectual disability0TMEM107 CL E G H8431428128OMIM:617562Meckel syndrome 13.4
HP:0001249HP:0001249Intellectual disability0TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI4
HP:0001249HP:0001249Intellectual disability0TMEM138 CL E G H5152426944ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent39
HP:0001249HP:0001249Intellectual disability0TMEM147 CL E G H1043030414OMIM:620075
HP:0001249HP:0001249Intellectual disability0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 2.45
HP:0001249HP:0001249Intellectual disability0TMEM216 CL E G H5125925018ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent45
HP:0001249HP:0001249Intellectual disability0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent45
HP:0001249HP:0001249Intellectual disability0TMEM218 CL E G H21985427344ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0TMEM231 CL E G H7958337234ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent33
HP:0001249HP:0001249Intellectual disability0TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 333
HP:0001249HP:0001249Intellectual disability0TMEM237 CL E G H6506214432ORPHA:475Joubert syndromeHP:0040281 - Very frequent82
HP:0001249HP:0001249Intellectual disability0TMEM237 CL E G H6506214432OMIM:614424Joubert syndrome 1482
HP:0001249HP:0001249Intellectual disability0TMEM237 CL E G H6506214432ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent82
HP:0001249HP:0001249Intellectual disability0TMEM237 CL E G H6506214432ORPHA:220497Joubert syndrome with renal defectHP:0040281 - Very frequent82
HP:0001249HP:0001249Intellectual disability0TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0001249HP:0001249Intellectual disability0TMEM240 CL E G H33945325186ORPHA:98773Spinocerebellar ataxia type 21HP:0040282 - Frequent9
HP:0001249HP:0001249Intellectual disability0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0TMEM63C CL E G H5715623787OMIM:619966
HP:0001249HP:0001249Intellectual disability0TMEM67 CL E G H9114728396OMIM:615991Bardet-Biedl syndrome 14.166
HP:0001249HP:0001249Intellectual disability0TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0001249HP:0001249Intellectual disability0TMEM67 CL E G H9114728396ORPHA:475Joubert syndromeHP:0040281 - Very frequent166
HP:0001249HP:0001249Intellectual disability0TMEM67 CL E G H9114728396OMIM:610688Joubert syndrome 6.166
HP:0001249HP:0001249Intellectual disability0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defect166
HP:0001249HP:0001249Intellectual disability0TMEM70 CL E G H5496826050ORPHA:1194TMEM70-related mitochondrial encephalo-cardio-myopathy63
HP:0001249HP:0001249Intellectual disability0TMLHE CL E G H5521718308OMIM:300872Autism, susceptibility to, X-linked 6.10
HP:0001249HP:0001249Intellectual disability0TMPRSS6 CL E G H16465616517ORPHA:209981IRIDA syndromeHP:0040281 - Very frequent65
HP:0001249HP:0001249Intellectual disability0TMTC3 CL E G H16041826899OMIM:617255Lissencephaly 8.5
HP:0001249HP:0001249Intellectual disability0TMX2 CL E G H5107530739OMIM:618730NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS2
HP:0001249HP:0001249Intellectual disability0TNFRSF11A CL E G H879211908ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent72
HP:0001249HP:0001249Intellectual disability0TNIK CL E G H2304330765OMIM:617028Mental retardation, autosomal recessive 54.2
HP:0001249HP:0001249Intellectual disability0TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0001249HP:0001249Intellectual disability0TNRC6B CL E G H2311229190OMIM:619243GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0001249HP:0001249Intellectual disability0TOE1 CL E G H11403415954ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent6
HP:0001249HP:0001249Intellectual disability0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0001249HP:0001249Intellectual disability0TOGARAM1 CL E G H2311619959ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0TOMM40 CL E G H1045218001ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional
HP:0001249HP:0001249Intellectual disability0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasia
HP:0001249HP:0001249Intellectual disability0TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime typeHP:0040283 - Occasional
HP:0001249HP:0001249Intellectual disability0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent61
HP:0001249HP:0001249Intellectual disability0TOPORS CL E G H1021021653ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent61
HP:0001249HP:0001249Intellectual disability0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0001249HP:0001249Intellectual disability0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0001249HP:0001249Intellectual disability0TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040283 - Occasional140
HP:0001249HP:0001249Intellectual disability0TPO CL E G H717312015ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional92
HP:0001249HP:0001249Intellectual disability0TPRKB CL E G H5100224259OMIM:617731Galloway-Mowat syndrome 5
HP:0001249HP:0001249Intellectual disability0TRAIP CL E G H1029330764ORPHA:808Seckel syndromeHP:0040281 - Very frequent2
HP:0001249HP:0001249Intellectual disability0TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0TRAPPC10 CL E G H710911868OMIM:6200271
HP:0001249HP:0001249Intellectual disability0TRAPPC10 CL E G H710911868ORPHA:2512Autosomal recessive primary microcephaly1
HP:0001249HP:0001249Intellectual disability0TRAPPC11 CL E G H6068425751ORPHA:369847Intellectual disability-hyperkinetic movement-truncal ataxia syndromeHP:0040282 - Frequent27
HP:0001249HP:0001249Intellectual disability0TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18.27
HP:0001249HP:0001249Intellectual disability0TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R1827
HP:0001249HP:0001249Intellectual disability0TRAPPC14 CL E G H5526225604ORPHA:2512Autosomal recessive primary microcephaly
HP:0001249HP:0001249Intellectual disability0TRAPPC14 CL E G H5526225604OMIM:618351Microcephaly 25, primary, autosomal recessive
HP:0001249HP:0001249Intellectual disability0TRAPPC4 CL E G H5139919943OMIM:618741NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA1
HP:0001249HP:0001249Intellectual disability0TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0001249HP:0001249Intellectual disability0TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome158
HP:0001249HP:0001249Intellectual disability0TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13.158
HP:0001249HP:0001249Intellectual disability0TREM2 CL E G H5420917761ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional31
HP:0001249HP:0001249Intellectual disability0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndrome56
HP:0001249HP:0001249Intellectual disability0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0001249HP:0001249Intellectual disability0TRH CL E G H720012298OMIM:275120Thyrotropin-Releasing hormone deficiency.5
HP:0001249HP:0001249Intellectual disability0TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent108
HP:0001249HP:0001249Intellectual disability0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0001249HP:0001249Intellectual disability0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040281 - Very frequent1
HP:0001249HP:0001249Intellectual disability0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0001249HP:0001249Intellectual disability0TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0001249HP:0001249Intellectual disability0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 44.8
HP:0001249HP:0001249Intellectual disability0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome8
HP:0001249HP:0001249Intellectual disability0TRIP12 CL E G H932012306OMIM:617752Mental retardation, autosomal dominant 49.2
HP:0001249HP:0001249Intellectual disability0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040282 - Frequent2
HP:0001249HP:0001249Intellectual disability0TRIT1 CL E G H5480220286OMIM:617873Combined oxidative phosphorylation deficiency 35.12
HP:0001249HP:0001249Intellectual disability0TRMT10A CL E G H9358728403OMIM:616033Microcephaly, short stature, and impaired glucose metabolism 1.7
HP:0001249HP:0001249Intellectual disability0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040281 - Very frequent7
HP:0001249HP:0001249Intellectual disability0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitus
HP:0001249HP:0001249Intellectual disability0TRNL1 CL E G H45677490ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0001249HP:0001249Intellectual disability0TRNL2 CL E G H45687491ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0001249HP:0001249Intellectual disability0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency.
HP:0001249HP:0001249Intellectual disability0TRNN CL E G H45707493ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0001249HP:0001249Intellectual disability0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency.
HP:0001249HP:0001249Intellectual disability0TRNS1 CL E G H45747497ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0001249HP:0001249Intellectual disability0TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040282 - Frequent171
HP:0001249HP:0001249Intellectual disability0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2
HP:0001249HP:0001249Intellectual disability0TSC1 CL E G H724812362OMIM:607341Focal cortical dysplasia of taylor.1090
HP:0001249HP:0001249Intellectual disability0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0001249HP:0001249Intellectual disability0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0001249HP:0001249Intellectual disability0TSC2 CL E G H724912363OMIM:607341Focal cortical dysplasia of taylor.2738
HP:0001249HP:0001249Intellectual disability0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0001249HP:0001249Intellectual disability0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0001249HP:0001249Intellectual disability0TSEN15 CL E G H11646116791OMIM:617026Pontocerebellar hypoplasia, type 2F.3
HP:0001249HP:0001249Intellectual disability0TSHB CL E G H725212372OMIM:275100Hypothyroidism, congenital, nongoitrous, 49
HP:0001249HP:0001249Intellectual disability0TSHR CL E G H725312373ORPHA:95713Athyreosis97
HP:0001249HP:0001249Intellectual disability0TSHR CL E G H725312373OMIM:609152Hyperthyroidism, nonautoimmune.97
HP:0001249HP:0001249Intellectual disability0TSHR CL E G H725312373ORPHA:95720Thyroid hypoplasia97
HP:0001249HP:0001249Intellectual disability0TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathy39
HP:0001249HP:0001249Intellectual disability0TSPAN7 CL E G H710211854OMIM:300210MENTAL RETARDATION, X-LINKED 58; MRX5826
HP:0001249HP:0001249Intellectual disability0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystonia2
HP:0001249HP:0001249Intellectual disability0TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0001249HP:0001249Intellectual disability0TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent41
HP:0001249HP:0001249Intellectual disability0TTC8 CL E G H12301620087OMIM:615985Bardet-Biedl syndrome 8.41
HP:0001249HP:0001249Intellectual disability0TTC8 CL E G H12301620087ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent41
HP:0001249HP:0001249Intellectual disability0TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 39.11
HP:0001249HP:0001249Intellectual disability0TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome11
HP:0001249HP:0001249Intellectual disability0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathy7128
HP:0001249HP:0001249Intellectual disability0TUB CL E G H727512406ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0001249HP:0001249Intellectual disability0TUBA1A CL E G H784620766OMIM:611603Lissencephaly 3106
HP:0001249HP:0001249Intellectual disability0TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional14
HP:0001249HP:0001249Intellectual disability0TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 1.14
HP:0001249HP:0001249Intellectual disability0TUBB2B CL E G H34773330829OMIM:610031Cortical dysplasia, complex, with other brain malformations 7.39
HP:0001249HP:0001249Intellectual disability0TUBB2B CL E G H34773330829ORPHA:1766Dysequilibrium syndromeHP:0040281 - Very frequent39
HP:0001249HP:0001249Intellectual disability0TUBB2B CL E G H34773330829ORPHA:300573Polymicrogyria due to TUBB2B mutationHP:0040282 - Frequent39
HP:0001249HP:0001249Intellectual disability0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040282 - Frequent64
HP:0001249HP:0001249Intellectual disability0TUBB3 CL E G H1038120772OMIM:614039Cortical dysplasia, complex, with other brain malformations 164
HP:0001249HP:0001249Intellectual disability0TUBB4A CL E G H1038220774OMIM:612438Leukodystrophy, hypomyelinating, 6.66
HP:0001249HP:0001249Intellectual disability0TUBB4B CL E G H1038320771ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional
HP:0001249HP:0001249Intellectual disability0TUBG1 CL E G H728312417ORPHA:26118315q11.2 microdeletion syndromeHP:0040282 - Frequent14
HP:0001249HP:0001249Intellectual disability0TUBGCP4 CL E G H2722916691ORPHA:2518Autosomal recessive chorioretinopathy-microcephaly syndromeHP:0040282 - Frequent14
HP:0001249HP:0001249Intellectual disability0TUBGCP6 CL E G H8537818127ORPHA:2518Autosomal recessive chorioretinopathy-microcephaly syndromeHP:0040282 - Frequent61
HP:0001249HP:0001249Intellectual disability0TUBGCP6 CL E G H8537818127OMIM:251270Microcephaly and chorioretinopathy, autosomal recessive, 1.61
HP:0001249HP:0001249Intellectual disability0TULP1 CL E G H728712423ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional66
HP:0001249HP:0001249Intellectual disability0TULP1 CL E G H728712423ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent66
HP:0001249HP:0001249Intellectual disability0TUSC3 CL E G H799130242OMIM:611093Mental retardation, autosomal recessive 7.76
HP:0001249HP:0001249Intellectual disability0TWIST1 CL E G H729112428ORPHA:35099Isolated brachycephalyHP:0040283 - Occasional18
HP:0001249HP:0001249Intellectual disability0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndrome18
HP:0001249HP:0001249Intellectual disability0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndromeHP:0040283 - Occasional18
HP:0001249HP:0001249Intellectual disability0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndromeHP:0040283 - Occasional7
HP:0001249HP:0001249Intellectual disability0TWNK CL E G H566521160OMIM:271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type).113
HP:0001249HP:0001249Intellectual disability0TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare85
HP:0001249HP:0001249Intellectual disability0TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type)138
HP:0001249HP:0001249Intellectual disability0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional138
HP:0001249HP:0001249Intellectual disability0UBA5 CL E G H7987623230OMIM:617132Epileptic encephalopathy, early infantile, 4413
HP:0001249HP:0001249Intellectual disability0UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent13
HP:0001249HP:0001249Intellectual disability0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0001249HP:0001249Intellectual disability0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento type7
HP:0001249HP:0001249Intellectual disability0UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040282 - Frequent2
HP:0001249HP:0001249Intellectual disability0UBE3A CL E G H733712496ORPHA:23844615q11q13 microduplication syndromeHP:0040281 - Very frequent278
HP:0001249HP:0001249Intellectual disability0UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0001249HP:0001249Intellectual disability0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutation278
HP:0001249HP:0001249Intellectual disability0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion278
HP:0001249HP:0001249Intellectual disability0UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15HP:0040282 - Frequent278
HP:0001249HP:0001249Intellectual disability0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0001249HP:0001249Intellectual disability0UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman typeHP:0040281 - Very frequent13
HP:0001249HP:0001249Intellectual disability0UBE4A CL E G H935412499OMIM:619639NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS1
HP:0001249HP:0001249Intellectual disability0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome.25
HP:0001249HP:0001249Intellectual disability0UBR1 CL E G H19713116808ORPHA:2315Johanson-Blizzard syndromeHP:0040282 - Frequent25
HP:0001249HP:0001249Intellectual disability0UBR7 CL E G H5514820344OMIM:619189LI-CAMPEAU SYNDROME; LICAS1
HP:0001249HP:0001249Intellectual disability0UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1
HP:0001249HP:0001249Intellectual disability0UBTF CL E G H734312511OMIM:617672Neurodegeneration, childhood-onset, with brain atrophy1
HP:0001249HP:0001249Intellectual disability0UFC1 CL E G H5150626941OMIM:618076Neurodevelopmental disorder with spasticity and poor growth.
HP:0001249HP:0001249Intellectual disability0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001249HP:0001249Intellectual disability0UFM1 CL E G H5156920597OMIM:617899Leukodystrophy, hypomyelinating, 14.
HP:0001249HP:0001249Intellectual disability0UFSP2 CL E G H5532525640OMIM:6200282
HP:0001249HP:0001249Intellectual disability0UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0001249HP:0001249Intellectual disability0UGT1A1 CL E G H5465812530ORPHA:79234Crigler-Najjar syndrome type 1HP:0040283 - Occasional73
HP:0001249HP:0001249Intellectual disability0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 223
HP:0001249HP:0001249Intellectual disability0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome23
HP:0001249HP:0001249Intellectual disability0UPB1 CL E G H5173316297OMIM:613161Beta-Ureidopropionase deficiency44
HP:0001249HP:0001249Intellectual disability0UPF3B CL E G H6510920439ORPHA:776Lujan-Fryns syndromeHP:0040281 - Very frequent33
HP:0001249HP:0001249Intellectual disability0UPF3B CL E G H6510920439OMIM:300676MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS1433
HP:0001249HP:0001249Intellectual disability0UQCRQ CL E G H2708929594OMIM:615159Mitochondrial complex III deficiency, nuclear type 4.34
HP:0001249HP:0001249Intellectual disability0UROC1 CL E G H13166926444OMIM:276880Urocanase deficiency8
HP:0001249HP:0001249Intellectual disability0USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040282 - Frequent1
HP:0001249HP:0001249Intellectual disability0USH1C CL E G H1008312597ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent173
HP:0001249HP:0001249Intellectual disability0USH1G CL E G H12459016356ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent78
HP:0001249HP:0001249Intellectual disability0USH2A CL E G H739912601ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent777
HP:0001249HP:0001249Intellectual disability0USP27X CL E G H38985613486OMIM:300984MENTAL RETARDATION, X-LINKED 105; MRX1053
HP:0001249HP:0001249Intellectual disability0USP45 CL E G H8501520080ORPHA:65Leber congenital amaurosisHP:0040283 - Occasional
HP:0001249HP:0001249Intellectual disability0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0001249HP:0001249Intellectual disability0USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0001249HP:0001249Intellectual disability0USP8 CL E G H910112631ORPHA:401795Autosomal recessive spastic paraplegia type 59HP:0040283 - Occasional7
HP:0001249HP:0001249Intellectual disability0USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted27
HP:0001249HP:0001249Intellectual disability0USP9X CL E G H823912632OMIM:300919MENTAL RETARDATION, X-LINKED 99; MRX9927
HP:0001249HP:0001249Intellectual disability0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability27
HP:0001249HP:0001249Intellectual disability0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0001249HP:0001249Intellectual disability0VAMP2 CL E G H684412643OMIM:618760NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0001249HP:0001249Intellectual disability0VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy.
HP:0001249HP:0001249Intellectual disability0VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional63
HP:0001249HP:0001249Intellectual disability0VLDLR CL E G H743612698OMIM:224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1.111
HP:0001249HP:0001249Intellectual disability0VLDLR CL E G H743612698ORPHA:1766Dysequilibrium syndromeHP:0040281 - Very frequent111
HP:0001249HP:0001249Intellectual disability0VPS11 CL E G H5582314583OMIM:616683Leukodystrophy, hypomyelinating, 12.1
HP:0001249HP:0001249Intellectual disability0VPS11 CL E G H5582314583ORPHA:466934VPS11-related autosomal recessive hypomyelinating leukodystrophyHP:0040281 - Very frequent1
HP:0001249HP:0001249Intellectual disability0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome.546
HP:0001249HP:0001249Intellectual disability0VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040281 - Very frequent546
HP:0001249HP:0001249Intellectual disability0VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4
HP:0001249HP:0001249Intellectual disability0VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0001249HP:0001249Intellectual disability0VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0001249HP:0001249Intellectual disability0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001249HP:0001249Intellectual disability0VPS41 CL E G H2707212713OMIM:619389SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0001249HP:0001249Intellectual disability0VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0001249HP:0001249Intellectual disability0VPS53 CL E G H5527525608OMIM:615851Pontocerebellar hypoplasia, type 2E26
HP:0001249HP:0001249Intellectual disability0VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A.32
HP:0001249HP:0001249Intellectual disability0VWA3B CL E G H20040328385OMIM:616948Spinocerebellar ataxia, autosomal recessive 22.1
HP:0001249HP:0001249Intellectual disability0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040281 - Very frequent20
HP:0001249HP:0001249Intellectual disability0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040281 - Very frequent20
HP:0001249HP:0001249Intellectual disability0WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures.2
HP:0001249HP:0001249Intellectual disability0WARS2 CL E G H1035212730OMIM:619738PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS32
HP:0001249HP:0001249Intellectual disability0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040281 - Very frequent2
HP:0001249HP:0001249Intellectual disability0WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0001249HP:0001249Intellectual disability0WASHC4 CL E G H2332529174OMIM:615817Mental retardation, autosomal recessive 43.25
HP:0001249HP:0001249Intellectual disability0WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040281 - Very frequent83
HP:0001249HP:0001249Intellectual disability0WDFY3 CL E G H2300120751OMIM:617520Microcephaly 18, primary, autosomal dominant6
HP:0001249HP:0001249Intellectual disability0WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent60
HP:0001249HP:0001249Intellectual disability0WDR11 CL E G H5571713831ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional10
HP:0001249HP:0001249Intellectual disability0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040281 - Very frequent8
HP:0001249HP:0001249Intellectual disability0WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome.8
HP:0001249HP:0001249Intellectual disability0WDR37 CL E G H2288431406OMIM:618652NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0001249HP:0001249Intellectual disability0WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6
HP:0001249HP:0001249Intellectual disability0WDR45 CL E G H1115228912ORPHA:329284Beta-propeller protein-associated neurodegenerationHP:0040282 - Frequent51
HP:0001249HP:0001249Intellectual disability0WDR45 CL E G H1115228912OMIM:300894Neurodegeneration with brain iron accumulation 5.51
HP:0001249HP:0001249Intellectual disability0WDR45B CL E G H5627025072OMIM:617977Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures1
HP:0001249HP:0001249Intellectual disability0WDR48 CL E G H5759930914ORPHA:401800Autosomal recessive spastic paraplegia type 601
HP:0001249HP:0001249Intellectual disability0WDR62 CL E G H28440324502ORPHA:2512Autosomal recessive primary microcephaly224
HP:0001249HP:0001249Intellectual disability0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations.224
HP:0001249HP:0001249Intellectual disability0WDR73 CL E G H8494225928ORPHA:83472CAMOS syndromeHP:0040281 - Very frequent14
HP:0001249HP:0001249Intellectual disability0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 114
HP:0001249HP:0001249Intellectual disability0WDR81 CL E G H12499726600OMIM:610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome227
HP:0001249HP:0001249Intellectual disability0WDR81 CL E G H12499726600ORPHA:1766Dysequilibrium syndromeHP:0040281 - Very frequent27
HP:0001249HP:0001249Intellectual disability0WFS1 CL E G H746612762ORPHA:3463Wolfram syndromeHP:0040283 - Occasional389
HP:0001249HP:0001249Intellectual disability0WFS1 CL E G H746612762OMIM:222300Wolfram syndrome 1.389
HP:0001249HP:0001249Intellectual disability0WIPI2 CL E G H2610032225OMIM:618453Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0001249HP:0001249Intellectual disability0WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0001249HP:0001249Intellectual disability0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional98
HP:0001249HP:0001249Intellectual disability0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98
HP:0001249HP:0001249Intellectual disability0WT1 CL E G H749012796ORPHA:893WAGR syndromeHP:0040282 - Frequent177
HP:0001249HP:0001249Intellectual disability0WT1 CL E G H749012796OMIM:194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndromeHP:0040282 - Frequent177
HP:0001249HP:0001249Intellectual disability0WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent149
HP:0001249HP:0001249Intellectual disability0WWOX CL E G H5174112799OMIM:614322Spinocerebellar ataxia, autosomal recessive 12.149
HP:0001249HP:0001249Intellectual disability0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosum34
HP:0001249HP:0001249Intellectual disability0XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A.34
HP:0001249HP:0001249Intellectual disability0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosum86
HP:0001249HP:0001249Intellectual disability0XPNPEP3 CL E G H6392928052OMIM:613159Nephronophthisis-Like nephropathy 1HP:0040283 - Occasional109
HP:0001249HP:0001249Intellectual disability0XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040282 - Frequent125
HP:0001249HP:0001249Intellectual disability0XRCC4 CL E G H751812831ORPHA:99812LIG4 syndromeHP:0040282 - Frequent9
HP:0001249HP:0001249Intellectual disability0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0001249HP:0001249Intellectual disability0XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent14
HP:0001249HP:0001249Intellectual disability0XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDG14
HP:0001249HP:0001249Intellectual disability0XYLT2 CL E G H6413215517ORPHA:85194Spondylo-ocular syndromeHP:0040283 - Occasional5
HP:0001249HP:0001249Intellectual disability0YAP1 CL E G H1041316262OMIM:120433Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardationHP:0040283 - Occasional2
HP:0001249HP:0001249Intellectual disability0YAP1 CL E G H1041316262ORPHA:1473Uveal coloboma-cleft lip and palate-intellectual disabilityHP:0040282 - Frequent2
HP:0001249HP:0001249Intellectual disability0YARS2 CL E G H5106724249ORPHA:2598Mitochondrial myopathy and sideroblastic anemiaHP:0040282 - Frequent45
HP:0001249HP:0001249Intellectual disability0YEATS2 CL E G H5568925489ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040283 - Occasional1
HP:0001249HP:0001249Intellectual disability0YME1L1 CL E G H1073012843OMIM:617302Optic atrophy 11.2
HP:0001249HP:0001249Intellectual disability0YWHAG CL E G H753212852OMIM:617665Epileptic encephalopathy, early infantile, 56.
HP:0001249HP:0001249Intellectual disability0YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001249HP:0001249Intellectual disability0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndrome7
HP:0001249HP:0001249Intellectual disability0YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome.7
HP:0001249HP:0001249Intellectual disability0YY1AP1 CL E G H5524930935ORPHA:79094Grange syndrome5
HP:0001249HP:0001249Intellectual disability0YY1AP1 CL E G H5524930935OMIM:602531Grange syndrome.5
HP:0001249HP:0001249Intellectual disability0ZBTB11 CL E G H2710716740OMIM:618383Intellectual developmental disorder, autosomal recessive 69
HP:0001249HP:0001249Intellectual disability0ZBTB18 CL E G H1047213030ORPHA:36367Distal monosomy 1qHP:0040281 - Very frequent16
HP:0001249HP:0001249Intellectual disability0ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 22.16
HP:0001249HP:0001249Intellectual disability0ZBTB20 CL E G H2613713503ORPHA:3042Intellectual disability-cataracts-calcified pinnae-myopathy syndromeHP:0040281 - Very frequent17
HP:0001249HP:0001249Intellectual disability0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0001249HP:0001249Intellectual disability0ZBTB24 CL E G H984121143ORPHA:2268ICF syndromeHP:0040282 - Frequent9
HP:0001249HP:0001249Intellectual disability0ZBTB24 CL E G H984121143OMIM:614069Immunodeficiency-Centromeric instability-facial anomalies syndrome2.9
HP:0001249HP:0001249Intellectual disability0ZBTB7A CL E G H5134118078OMIM:619769MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0001249HP:0001249Intellectual disability0ZC3H14 CL E G H7988220509OMIM:617125Mental retardation, autosomal recessive 56.24
HP:0001249HP:0001249Intellectual disability0ZC4H2 CL E G H5590624931ORPHA:3454Intellectual disability-developmental delay-contractures syndrome19
HP:0001249HP:0001249Intellectual disability0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome19
HP:0001249HP:0001249Intellectual disability0ZDHHC9 CL E G H5111418475ORPHA:776Lujan-Fryns syndromeHP:0040281 - Very frequent10
HP:0001249HP:0001249Intellectual disability0ZDHHC9 CL E G H5111418475OMIM:300799Mental retardation, x-linked syndromic, Raymond typeHP:0040280 - Obligate10
HP:0001249HP:0001249Intellectual disability0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0001249HP:0001249Intellectual disability0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040281 - Very frequent362
HP:0001249HP:0001249Intellectual disability0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040281 - Very frequent362
HP:0001249HP:0001249Intellectual disability0ZFR CL E G H5166317277ORPHA:401840Autosomal recessive spastic paraplegia type 711
HP:0001249HP:0001249Intellectual disability0ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15HP:0040282 - Frequent189
HP:0001249HP:0001249Intellectual disability0ZFYVE26 CL E G H2350320761OMIM:270700Spastic paraplegia 15, autosomal recessive.189
HP:0001249HP:0001249Intellectual disability0ZIC1 CL E G H754512872ORPHA:35099Isolated brachycephalyHP:0040283 - Occasional5
HP:0001249HP:0001249Intellectual disability0ZIC1 CL E G H754512872OMIM:618736STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS5
HP:0001249HP:0001249Intellectual disability0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent34
HP:0001249HP:0001249Intellectual disability0ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 5.34
HP:0001249HP:0001249Intellectual disability0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent34
HP:0001249HP:0001249Intellectual disability0ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent34
HP:0001249HP:0001249Intellectual disability0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent34
HP:0001249HP:0001249Intellectual disability0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent34
HP:0001249HP:0001249Intellectual disability0ZIC2 CL E G H754612873ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent34
HP:0001249HP:0001249Intellectual disability0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0001249HP:0001249Intellectual disability0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001249HP:0001249Intellectual disability0ZMYND11 CL E G H1077116966OMIM:616083Mental retardation, autosomal dominant 30.24
HP:0001249HP:0001249Intellectual disability0ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies.4
HP:0001249HP:0001249Intellectual disability0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0001249HP:0001249Intellectual disability0ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68
HP:0001249HP:0001249Intellectual disability0ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathy14
HP:0001249HP:0001249Intellectual disability0ZNF408 CL E G H7979720041ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent14
HP:0001249HP:0001249Intellectual disability0ZNF423 CL E G H2309016762ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent49
HP:0001249HP:0001249Intellectual disability0ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0001249HP:0001249Intellectual disability0ZNF513 CL E G H13055726498ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent27
HP:0001249HP:0001249Intellectual disability0ZNF592 CL E G H964028986ORPHA:83472CAMOS syndromeHP:0040281 - Very frequent4
HP:0001249HP:0001249Intellectual disability0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0001249HP:0001249Intellectual disability0ZNF711 CL E G H755213128OMIM:300803MENTAL RETARDATION, X-LINKED 97; MRX9734
HP:0001249HP:0001249Intellectual disability0ZNHIT3 CL E G H932612309OMIM:260565Peho syndrome1
HP:0001249HP:0001249Intellectual disability0ZNHIT3 CL E G H932612309ORPHA:2836PEHO syndrome1
HP:0001249HP:0001249Intellectual disability0ZSWIM6 CL E G H5768829316OMIM:603671Acromelic frontonasal dysostosis.5
HP:0001249HP:0001249Intellectual disability0ZSWIM6 CL E G H5768829316ORPHA:1827Acromelic frontonasal dysplasiaHP:0040281 - Very frequent5
HP:0001249HP:0001249Intellectual disability0ZSWIM6 CL E G H5768829316OMIM:617865Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features.5
HP:0001249HP:0006889Intellectual disability, borderline1AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0001249HP:0001256Intellectual disability, mild1AASS CL E G H1015717366OMIM:238700Hyperlysinemia, type I.15
HP:0001249HP:0001256Intellectual disability, mild1AASS CL E G H1015717366ORPHA:3124SaccharopinuriaHP:0040283 - Occasional15
HP:0001249HP:0001256Intellectual disability, mild1ABCA2 CL E G H2032OMIM:618808INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0001249HP:0010864Intellectual disability, severe1ABCC8 CL E G H683359ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional245
HP:0001249HP:0001256Intellectual disability, mild1ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia.254
HP:0001249HP:0001256Intellectual disability, mild1ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040282 - Frequent254
HP:0001249HP:0010864Intellectual disability, severe1ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040284 - Very rare91
HP:0001249HP:0001256Intellectual disability, mild1ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040284 - Very rare91
HP:0001249HP:0010864Intellectual disability, severe1ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0001249HP:0010864Intellectual disability, severe1ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiencyHP:0040281 - Very frequent120
HP:0001249HP:0006887Intellectual disability, progressive1ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0001249HP:0010864Intellectual disability, severe1ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0001249HP:0001256Intellectual disability, mild1ACOX2 CL E G H8309120OMIM:617308Bile acid synthesis defect, congenital, 6.2
HP:0001249HP:0001256Intellectual disability, mild1ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0001249HP:0010864Intellectual disability, severe1ACSL4 CL E G H21823571ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040281 - Very frequent19
HP:0001249HP:0001256Intellectual disability, mild1ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset.72
HP:0001249HP:0010864Intellectual disability, severe1ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects2
HP:0001249HP:0001256Intellectual disability, mild1ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressivaHP:0040284 - Very rare49
HP:0001249HP:0002187Intellectual disability, profound1ADAM22 CL E G H53616201OMIM:617933Epileptic encephalopathy, early infantile, 61.
HP:0001249HP:0001256Intellectual disability, mild1ADAMTS10 CL E G H8179413201ORPHA:3449Weill-Marchesani syndromeHP:0040283 - Occasional63
HP:0001249HP:0001256Intellectual disability, mild1ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 163
HP:0001249HP:0002187Intellectual disability, profound1ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent116
HP:0001249HP:0001256Intellectual disability, mild1ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent116
HP:0001249HP:0010864Intellectual disability, severe1ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0001249HP:0002342Intellectual disability, moderate1ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0001249HP:0010864Intellectual disability, severe1ADGRG1 CL E G H92894512ORPHA:101070Bilateral frontoparietal polymicrogyriaHP:0040282 - Frequent88
HP:0001249HP:0001256Intellectual disability, mild1AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromeHP:0040282 - Frequent86
HP:0001249HP:0001256Intellectual disability, mild1AGL CL E G H178321ORPHA:366Glycogen storage disease due to glycogen debranching enzyme deficiencyHP:0040281 - Very frequent216
HP:0001249HP:0010864Intellectual disability, severe1AHSG CL E G H197349OMIM:203650Alopecia-Mental retardation syndrome 1.5
HP:0001249HP:0006887Intellectual disability, progressive1AHSG CL E G H197349OMIM:203650Alopecia-Mental retardation syndrome 1.5
HP:0001249HP:0006887Intellectual disability, progressive1AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration.60
HP:0001249HP:0002187Intellectual disability, profound1AIMP2 CL E G H796520609OMIM:618006Leukodystrophy, hypomyelinating, 17.1
HP:0001249HP:0001256Intellectual disability, mild1AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0001249HP:0002342Intellectual disability, moderate1AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic.54
HP:0001249HP:0010864Intellectual disability, severe1AKT3 CL E G H10000393ORPHA:99802HemimegalencephalyHP:0040283 - Occasional19
HP:0001249HP:0001256Intellectual disability, mild1ALAD CL E G H210395ORPHA:100924Porphyria due to ALA dehydratase deficiencyHP:0040283 - Occasional62
HP:0001249HP:0001256Intellectual disability, mild1ALG1 CL E G H5605218294ORPHA:79327ALG1-CDGHP:0040282 - Frequent58
HP:0001249HP:0010864Intellectual disability, severe1ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 36.96
HP:0001249HP:0010864Intellectual disability, severe1ALG14 CL E G H19985728287OMIM:619031INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF12
HP:0001249HP:0010864Intellectual disability, severe1ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0001249HP:0006889Intellectual disability, borderline1ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 275
HP:0001249HP:0006889Intellectual disability, borderline1ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 263
HP:0001249HP:0001256Intellectual disability, mild1ALX4 CL E G H60529450ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndromeHP:0040281 - Very frequent132
HP:0001249HP:0002342Intellectual disability, moderate1ALX4 CL E G H60529450ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndromeHP:0040281 - Very frequent132
HP:0001249HP:0001256Intellectual disability, mild1AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosisHP:0040282 - Frequent34
HP:0001249HP:0010864Intellectual disability, severe1AMMECR1 CL E G H9949467ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040281 - Very frequent2
HP:0001249HP:0001256Intellectual disability, mild1ANK3 CL E G H288494ORPHA:356996ANK3-related intellectual disability-sleep disturbance syndromeHP:0040283 - Occasional176
HP:0001249HP:0002342Intellectual disability, moderate1ANK3 CL E G H288494ORPHA:356996ANK3-related intellectual disability-sleep disturbance syndromeHP:0040282 - Frequent176
HP:0001249HP:0002342Intellectual disability, moderate1ANK3 CL E G H288494OMIM:615493Mental retardation, autosomal recessive 37.176
HP:0001249HP:0010864Intellectual disability, severe1ANKLE2 CL E G H2314129101ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent3
HP:0001249HP:0002342Intellectual disability, moderate1ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndromeHP:0040282 - Frequent102
HP:0001249HP:0001256Intellectual disability, mild1ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040283 - Occasional64
HP:0001249HP:0002342Intellectual disability, moderate1AP1S2 CL E G H8905560ORPHA:85335Fried syndromeHP:0040281 - Very frequent13
HP:0001249HP:0010864Intellectual disability, severe1AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome.13
HP:0001249HP:0002187Intellectual disability, profound1AP1S2 CL E G H8905560ORPHA:85329X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndromeHP:0040281 - Very frequent13
HP:0001249HP:0001256Intellectual disability, mild1AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0001249HP:0010864Intellectual disability, severe1AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040281 - Very frequent49
HP:0001249HP:0010864Intellectual disability, severe1AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessive.49
HP:0001249HP:0010864Intellectual disability, severe1AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040281 - Very frequent48
HP:0001249HP:0010864Intellectual disability, severe1AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive.48
HP:0001249HP:0010864Intellectual disability, severe1AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040281 - Very frequent41
HP:0001249HP:0010864Intellectual disability, severe1AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive.41
HP:0001249HP:0006887Intellectual disability, progressive1AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive.41
HP:0001249HP:0010864Intellectual disability, severe1AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040281 - Very frequent18
HP:0001249HP:0010864Intellectual disability, severe1AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive.18
HP:0001249HP:0001256Intellectual disability, mild1APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletionHP:0040282 - Frequent3179
HP:0001249HP:0002342Intellectual disability, moderate1APC CL E G H324583ORPHA:79665Gardner syndromeHP:0040284 - Very rare3179
HP:0001249HP:0010864Intellectual disability, severe1APC2 CL E G H1029724036OMIM:618677CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM101
HP:0001249HP:0001256Intellectual disability, mild1APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040282 - Frequent1
HP:0001249HP:0010864Intellectual disability, severe1APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040283 - Occasional1
HP:0001249HP:0002342Intellectual disability, moderate1APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040283 - Occasional1
HP:0001249HP:0010864Intellectual disability, severe1ARFGEF2 CL E G H1056415853OMIM:608097Periventricular heterotopia with microcephaly, autosomal recessive.179
HP:0001249HP:0010864Intellectual disability, severe1ARG1 CL E G H383663ORPHA:90ArgininemiaHP:0040281 - Very frequent31
HP:0001249HP:0006887Intellectual disability, progressive1ARHGEF9 CL E G H2322914561OMIM:300607Epileptic encephalopathy, early infantile, 8.45
HP:0001249HP:0010864Intellectual disability, severe1ARHGEF9 CL E G H2322914561OMIM:300607Epileptic encephalopathy, early infantile, 8.45
HP:0001249HP:0002342Intellectual disability, moderate1ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0001249HP:0010864Intellectual disability, severe1ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0001249HP:0001256Intellectual disability, mild1ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndromeHP:0040281 - Very frequent219
HP:0001249HP:0010864Intellectual disability, severe1ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0001249HP:0002342Intellectual disability, moderate1ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0001249HP:0002342Intellectual disability, moderate1ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0001249HP:0010864Intellectual disability, severe1ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0001249HP:0001256Intellectual disability, mild1ARPC4 CL E G H10093707OMIM:620141
HP:0001249HP:0002187Intellectual disability, profound1ARV1 CL E G H6480129561OMIM:617020Epileptic encephalopathy, early infantile, 38.3
HP:0001249HP:0001256Intellectual disability, mild1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent1
HP:0001249HP:0010864Intellectual disability, severe1ARX CL E G H17030218060ORPHA:2508Corpus callosum agenesis-abnormal genitalia syndromeHP:0040281 - Very frequent166
HP:0001249HP:0006887Intellectual disability, progressive1ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia.166
HP:0001249HP:0010864Intellectual disability, severe1ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia.166
HP:0001249HP:0010864Intellectual disability, severe1ARX CL E G H17030218060OMIM:300419Mental retardation, X-linked, with or without seizures, arx-related166
HP:0001249HP:0001256Intellectual disability, mild1ARX CL E G H17030218060ORPHA:94083Partington syndromeHP:0040282 - Frequent166
HP:0001249HP:0002342Intellectual disability, moderate1ARX CL E G H17030218060ORPHA:94083Partington syndromeHP:0040282 - Frequent166
HP:0001249HP:0010864Intellectual disability, severe1ASPM CL E G H25926619048ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent512
HP:0001249HP:0002187Intellectual disability, profound1ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0001249HP:0002187Intellectual disability, profound1ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0001249HP:0010864Intellectual disability, severe1ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0001249HP:0002187Intellectual disability, profound1ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040282 - Frequent49
HP:0001249HP:0010864Intellectual disability, severe1ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040282 - Frequent49
HP:0001249HP:0002342Intellectual disability, moderate1ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040283 - Occasional49
HP:0001249HP:0010864Intellectual disability, severe1ATIC CL E G H471794ORPHA:250977AICA-ribosiduriaHP:0040281 - Very frequent4
HP:0001249HP:0002187Intellectual disability, profound1ATIC CL E G H471794OMIM:608688Aicar transformylase/imp cyclohydrolase deficiency.4
HP:0001249HP:0001256Intellectual disability, mild1ATL1 CL E G H5106211231OMIM:182600Spastic paraplegia 3, autosomal dominantHP:0040283 - Occasional71
HP:0001249HP:0001256Intellectual disability, mild1ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0001249HP:0001256Intellectual disability, mild1ATP2A2 CL E G H488812OMIM:124200Darier-White disease.86
HP:0001249HP:0001256Intellectual disability, mild1ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent
HP:0001249HP:0010864Intellectual disability, severe1ATP6 CL E G H45087414ORPHA:644NARP syndromeHP:0040282 - Frequent
HP:0001249HP:0001256Intellectual disability, mild1ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0001249HP:0002187Intellectual disability, profound1ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent140
HP:0001249HP:0002187Intellectual disability, profound1ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent3
HP:0001249HP:0002187Intellectual disability, profound1ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent2
HP:0001249HP:0010864Intellectual disability, severe1ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0001249HP:0006887Intellectual disability, progressive1ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0001249HP:0006887Intellectual disability, progressive1B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0001249HP:0001256Intellectual disability, mild1B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive.25
HP:0001249HP:0010864Intellectual disability, severe1BCAP31 CL E G H1013416695OMIM:300475Deafness, dystonia, and cerebral hypomyelination.8
HP:0001249HP:0010864Intellectual disability, severe1BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0001249HP:0001256Intellectual disability, mild1BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0001249HP:0010864Intellectual disability, severe1BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome17
HP:0001249HP:0001256Intellectual disability, mild1BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional99
HP:0001249HP:0001256Intellectual disability, mild1BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2HP:0040283 - Occasional99
HP:0001249HP:0001256Intellectual disability, mild1BLM CL E G H6411058OMIM:210900Bloom syndromeHP:0040283 - Occasional314
HP:0001249HP:0001256Intellectual disability, mild1BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional385
HP:0001249HP:0001256Intellectual disability, mild1BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040281 - Very frequent2
HP:0001249HP:0001256Intellectual disability, mild1BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional276
HP:0001249HP:0010864Intellectual disability, severe1BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0001249HP:0010864Intellectual disability, severe1BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040283 - Occasional7
HP:0001249HP:0001256Intellectual disability, mild1BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040282 - Frequent7
HP:0001249HP:0001256Intellectual disability, mild1BRWD3 CL E G H25406517342OMIM:300659MENTAL RETARDATION, X-LINKED 93; MRX93104
HP:0001249HP:0001256Intellectual disability, mild1BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2.105
HP:0001249HP:0002187Intellectual disability, profound1BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0001249HP:0001256Intellectual disability, mild1C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome.13
HP:0001249HP:0010864Intellectual disability, severe1C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV.27
HP:0001249HP:0010864Intellectual disability, severe1CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0001249HP:0001256Intellectual disability, mild1CA8 CL E G H7671382OMIM:613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3.8
HP:0001249HP:0001256Intellectual disability, mild1CABP4 CL E G H570101386ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare94
HP:0001249HP:0010864Intellectual disability, severe1CACNA1D CL E G H7761391ORPHA:369929Primary hyperaldosteronism-seizures-neurological abnormalities syndromeHP:0040282 - Frequent51
HP:0001249HP:0002342Intellectual disability, moderate1CACNG2 CL E G H103691406OMIM:614256Mental retardation, autosomal dominant 10.5
HP:0001249HP:0010864Intellectual disability, severe1CAMK2A CL E G H8151460OMIM:618095Mental retardation, autosomal recessive 63.1
HP:0001249HP:0010864Intellectual disability, severe1CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 591
HP:0001249HP:0002342Intellectual disability, moderate1CAMKMT CL E G H7982326276ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent1
HP:0001249HP:0001256Intellectual disability, mild1CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation.34
HP:0001249HP:0001256Intellectual disability, mild1CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040281 - Very frequent34
HP:0001249HP:0001256Intellectual disability, mild1CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001249HP:0002342Intellectual disability, moderate1CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia.118
HP:0001249HP:0002342Intellectual disability, moderate1CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm typeHP:0040281 - Very frequent118
HP:0001249HP:0010864Intellectual disability, severe1CC2D1A CL E G H5486230237OMIM:608443Mental retardation, autosomal recessive 357
HP:0001249HP:0002342Intellectual disability, moderate1CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent247
HP:0001249HP:0002187Intellectual disability, profound1CCDC88A CL E G H5570425523OMIM:617507Peho-Like syndrome.1
HP:0001249HP:0010864Intellectual disability, severe1CDC40 CL E G H5136217350OMIM:619302PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001249HP:0002342Intellectual disability, moderate1CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040281 - Very frequent2
HP:0001249HP:0001256Intellectual disability, mild1CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome2
HP:0001249HP:0010864Intellectual disability, severe1CDK5RAP2 CL E G H5575518672ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent181
HP:0001249HP:0002342Intellectual disability, moderate1CDK5RAP2 CL E G H5575518672OMIM:604804Microcephaly 3, primary, autosomal recessive.181
HP:0001249HP:0010864Intellectual disability, severe1CDK6 CL E G H10211777ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent6
HP:0001249HP:0001256Intellectual disability, mild1CDK6 CL E G H10211777OMIM:616080Microcephaly 12, primary, autosomal recessive.6
HP:0001249HP:0001256Intellectual disability, mild1CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional405
HP:0001249HP:0002187Intellectual disability, profound1CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2.405
HP:0001249HP:0010864Intellectual disability, severe1CENPJ CL E G H5583517272ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent161
HP:0001249HP:0002342Intellectual disability, moderate1CENPJ CL E G H5583517272OMIM:608393Microcephaly, primary autosomal recessive, 6.161
HP:0001249HP:0010864Intellectual disability, severe1CEP135 CL E G H966229086ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent38
HP:0001249HP:0010864Intellectual disability, severe1CEP135 CL E G H966229086OMIM:614673Microcephaly 8, primary, autosomal recessive.38
HP:0001249HP:0010864Intellectual disability, severe1CEP152 CL E G H2299529298ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent146
HP:0001249HP:0001256Intellectual disability, mild1CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0001249HP:0010864Intellectual disability, severe1CEP63 CL E G H8025425815ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent31
HP:0001249HP:0010864Intellectual disability, severe1CEP85L CL E G H38711921638ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome1
HP:0001249HP:0001256Intellectual disability, mild1CHRNA2 CL E G H11351956ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare188
HP:0001249HP:0001256Intellectual disability, mild1CHRNA4 CL E G H11371958ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare225
HP:0001249HP:0001256Intellectual disability, mild1CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0001249HP:0010864Intellectual disability, severe1CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0001249HP:0002342Intellectual disability, moderate1CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0001249HP:0001256Intellectual disability, mild1CHRNB2 CL E G H11411962ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare88
HP:0001249HP:0010864Intellectual disability, severe1CIT CL E G H111131985ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent15
HP:0001249HP:0010864Intellectual disability, severe1CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040282 - Frequent45
HP:0001249HP:0002342Intellectual disability, moderate1CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040282 - Frequent45
HP:0001249HP:0001256Intellectual disability, mild1CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome.45
HP:0001249HP:0006889Intellectual disability, borderline1CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0001249HP:0002187Intellectual disability, profound1CLIC2 CL E G H11932063OMIM:300886MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS324
HP:0001249HP:0002187Intellectual disability, profound1CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeHP:0040282 - Frequent4
HP:0001249HP:0002187Intellectual disability, profound1CNPY3 CL E G H1069511968OMIM:617929Epileptic encephalopathy, early infantile, 60.
HP:0001249HP:0002342Intellectual disability, moderate1CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0001249HP:0010864Intellectual disability, severe1CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0001249HP:0001256Intellectual disability, mild1COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040282 - Frequent52
HP:0001249HP:0002342Intellectual disability, moderate1COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040283 - Occasional52
HP:0001249HP:0001256Intellectual disability, mild1COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0001249HP:0010864Intellectual disability, severe1COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040282 - Frequent79
HP:0001249HP:0002342Intellectual disability, moderate1COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0001249HP:0002342Intellectual disability, moderate1COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040283 - Occasional243
HP:0001249HP:0001256Intellectual disability, mild1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent6
HP:0001249HP:0010864Intellectual disability, severe1COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0001249HP:0010864Intellectual disability, severe1COPB2 CL E G H92762232ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent
HP:0001249HP:0002342Intellectual disability, moderate1COQ4 CL E G H5111719693OMIM:616276Coenzyme Q10 deficiency, primary, 724
HP:0001249HP:0002342Intellectual disability, moderate1COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiencyHP:0040282 - Frequent136
HP:0001249HP:0010864Intellectual disability, severe1COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent104
HP:0001249HP:0002342Intellectual disability, moderate1CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional1
HP:0001249HP:0006889Intellectual disability, borderline1CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional1
HP:0001249HP:0001256Intellectual disability, mild1CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional1
HP:0001249HP:0010864Intellectual disability, severe1CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent1
HP:0001249HP:0010864Intellectual disability, severe1CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome.1
HP:0001249HP:0010864Intellectual disability, severe1CRBN CL E G H5118530185OMIM:607417Mental retardation, autosomal recessive 2.19
HP:0001249HP:0001256Intellectual disability, mild1CRBN CL E G H5118530185OMIM:607417Mental retardation, autosomal recessive 2.19
HP:0001249HP:0001256Intellectual disability, mild1CRH CL E G H13922355ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare1
HP:0001249HP:0002187Intellectual disability, profound1CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7.
HP:0001249HP:0001256Intellectual disability, mild1CSTB CL E G H14762482OMIM:254800Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)51
HP:0001249HP:0010864Intellectual disability, severe1CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome.2
HP:0001249HP:0010864Intellectual disability, severe1CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0001249HP:0001256Intellectual disability, mild1CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndromeHP:0040281 - Very frequent17
HP:0001249HP:0010864Intellectual disability, severe1CTNNA2 CL E G H14962510OMIM:618174Cortical dysplasia, complex, with other brain malformations 9.2
HP:0001249HP:0001256Intellectual disability, mild1CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional88
HP:0001249HP:0010864Intellectual disability, severe1CTNND2 CL E G H15012516ORPHA:281Monosomy 5pHP:0040281 - Very frequent15
HP:0001249HP:0006887Intellectual disability, progressive1CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10.159
HP:0001249HP:0010864Intellectual disability, severe1CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10.159
HP:0001249HP:0001256Intellectual disability, mild1CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0001249HP:0010864Intellectual disability, severe1CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0001249HP:0010864Intellectual disability, severe1CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040281 - Very frequent38
HP:0001249HP:0002342Intellectual disability, moderate1CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040281 - Very frequent38
HP:0001249HP:0002342Intellectual disability, moderate1CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040283 - Occasional4
HP:0001249HP:0002342Intellectual disability, moderate1CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiencyHP:0040282 - Frequent9
HP:0001249HP:0001256Intellectual disability, mild1CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0001249HP:0010864Intellectual disability, severe1CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional2
HP:0001249HP:0010864Intellectual disability, severe1CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional24
HP:0001249HP:0001256Intellectual disability, mild1DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16HP:0040283 - Occasional108
HP:0001249HP:0010864Intellectual disability, severe1DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16HP:0040282 - Frequent108
HP:0001249HP:0010864Intellectual disability, severe1DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophyHP:0040282 - Frequent108
HP:0001249HP:0001256Intellectual disability, mild1DARS1 CL E G H16152678OMIM:615281HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0001249HP:0001256Intellectual disability, mild1DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndromeHP:0040281 - Very frequent87
HP:0001249HP:0001256Intellectual disability, mild1DCC CL E G H16302701ORPHA:238722Familial congenital mirror movementsHP:0040284 - Very rare36
HP:0001249HP:0001256Intellectual disability, mild1DCC CL E G H16302701OMIM:157600Mirror movements 1HP:0040284 - Very rare36
HP:0001249HP:0001256Intellectual disability, mild1DCDC2 CL E G H5147318141OMIM:617394Sclerosing cholangitis, neonatal8
HP:0001249HP:0002342Intellectual disability, moderate1DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040282 - Frequent27
HP:0001249HP:0010864Intellectual disability, severe1DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional27
HP:0001249HP:0006887Intellectual disability, progressive1DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent30
HP:0001249HP:0001256Intellectual disability, mild1DEPDC5 CL E G H968118423ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare172
HP:0001249HP:0001256Intellectual disability, mild1DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency.82
HP:0001249HP:0010864Intellectual disability, severe1DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiencyHP:0040282 - Frequent82
HP:0001249HP:0001256Intellectual disability, mild1DLK1 CL E G H87882907ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040281 - Very frequent1
HP:0001249HP:0001256Intellectual disability, mild1DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy.1496
HP:0001249HP:0010864Intellectual disability, severe1DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1.HP:0003577 - Congenital onset152
HP:0001249HP:0006887Intellectual disability, progressive1DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1.152
HP:0001249HP:0002187Intellectual disability, profound1DMXL2 CL E G H233122938OMIM:618663DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE813
HP:0001249HP:0002342Intellectual disability, moderate1DMXL2 CL E G H233122938OMIM:616113Polyendocrine-Polyneuropathy syndrome.3
HP:0001249HP:0002342Intellectual disability, moderate1DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndromeHP:0040282 - Frequent3
HP:0001249HP:0001256Intellectual disability, mild1DNAJC12 CL E G H5652128908OMIM:617384Hyperphenylalaninemia, MILD, non-bh4-deficient3
HP:0001249HP:0001256Intellectual disability, mild1DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 1.5
HP:0001249HP:0001256Intellectual disability, mild1DNAJC3 CL E G H56119439ORPHA:445062Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndromeHP:0040283 - Occasional3
HP:0001249HP:0001256Intellectual disability, mild1DNAL4 CL E G H101262955ORPHA:238722Familial congenital mirror movementsHP:0040284 - Very rare2
HP:0001249HP:0001256Intellectual disability, mild1DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndromeHP:0040283 - Occasional44
HP:0001249HP:0010864Intellectual disability, severe1DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndromeHP:0040283 - Occasional44
HP:0001249HP:0002342Intellectual disability, moderate1DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndromeHP:0040282 - Frequent44
HP:0001249HP:0001256Intellectual disability, mild1DONSON CL E G H299802993OMIM:617604Microcephaly, short stature, and limb abnormalitiesHP:0040284 - Very rare9
HP:0001249HP:0010864Intellectual disability, severe1DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040282 - Frequent38
HP:0001249HP:0002342Intellectual disability, moderate1DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040282 - Frequent38
HP:0001249HP:0010864Intellectual disability, severe1DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0001249HP:0002342Intellectual disability, moderate1DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0001249HP:0002187Intellectual disability, profound1DPH5 CL E G H5161124270OMIM:620070
HP:0001249HP:0002187Intellectual disability, profound1DPM3 CL E G H543443007ORPHA:263494DPM3-CDGHP:0040282 - Frequent9
HP:0001249HP:0001256Intellectual disability, mild1DPYD CL E G H18063012ORPHA:2939481p21.3 microdeletion syndromeHP:0040281 - Very frequent144
HP:0001249HP:0002187Intellectual disability, profound1DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0001249HP:0010864Intellectual disability, severe1DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001249HP:0001256Intellectual disability, mild1DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 2313
HP:0001249HP:0010864Intellectual disability, severe1DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040282 - Frequent65
HP:0001249HP:0001256Intellectual disability, mild1DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040283 - Occasional65
HP:0001249HP:0010864Intellectual disability, severe1DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0001249HP:0001256Intellectual disability, mild1DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040284 - Very rare134
HP:0001249HP:0010864Intellectual disability, severe1DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0001249HP:0002342Intellectual disability, moderate1EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant.51
HP:0001249HP:0010864Intellectual disability, severe1ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent33
HP:0001249HP:0001256Intellectual disability, mild1EDC3 CL E G H8015326114OMIM:616460Mental retardation, autosomal recessive 50.1
HP:0001249HP:0010864Intellectual disability, severe1EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 38.60
HP:0001249HP:0002342Intellectual disability, moderate1EGF CL E G H19503229OMIM:611718HYPOMAGNESEMIA 4, RENAL; HOMG473
HP:0001249HP:0010864Intellectual disability, severe1EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome.223
HP:0001249HP:0010864Intellectual disability, severe1EIF2S3 CL E G H19683267ORPHA:85282MEHMO syndromeHP:0040281 - Very frequent8
HP:0001249HP:0002187Intellectual disability, profound1ELOVL4 CL E G H678514415OMIM:614457Ichthyosis, spastic quadriplegia, and mental retardation.62
HP:0001249HP:0002187Intellectual disability, profound1EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndromeHP:0040282 - Frequent5
HP:0001249HP:0001256Intellectual disability, mild1EMC10 CL E G H28436127609OMIM:619264NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0001249HP:0010864Intellectual disability, severe1EML1 CL E G H20093330OMIM:600348Band heterotopia.3
HP:0001249HP:0006889Intellectual disability, borderline1ENTPD1 CL E G H9533363ORPHA:401810Autosomal recessive spastic paraplegia type 64HP:0040282 - Frequent3
HP:0001249HP:0002342Intellectual disability, moderate1ENTPD1 CL E G H9533363OMIM:615683Spastic paraplegia 64, autosomal recessive.3
HP:0001249HP:0001256Intellectual disability, mild1EP300 CL E G H20333373OMIM:613684Rubinstein-Taybi syndrome 2.250
HP:0001249HP:0010864Intellectual disability, severe1EPB41L1 CL E G H20363378OMIM:614257MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD1129
HP:0001249HP:0006887Intellectual disability, progressive1ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent106
HP:0001249HP:0006887Intellectual disability, progressive1ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent54
HP:0001249HP:0006887Intellectual disability, progressive1ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent158
HP:0001249HP:0001256Intellectual disability, mild1ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome.158
HP:0001249HP:0006887Intellectual disability, progressive1ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent83
HP:0001249HP:0002187Intellectual disability, profound1ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1.199
HP:0001249HP:0001256Intellectual disability, mild1ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent199
HP:0001249HP:0001256Intellectual disability, mild1ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent55
HP:0001249HP:0010864Intellectual disability, severe1ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndromeHP:0040281 - Very frequent18
HP:0001249HP:0001256Intellectual disability, mild1ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndromeHP:0040281 - Very frequent36
HP:0001249HP:0001256Intellectual disability, mild1EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive facies.
HP:0001249HP:0002187Intellectual disability, profound1EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0001249HP:0002342Intellectual disability, moderate1EXT2 CL E G H21323513ORPHA:466926Seizures-scoliosis-macrocephaly syndromeHP:0040282 - Frequent102
HP:0001249HP:0010864Intellectual disability, severe1EXT2 CL E G H21323513ORPHA:466926Seizures-scoliosis-macrocephaly syndromeHP:0040283 - Occasional102
HP:0001249HP:0001256Intellectual disability, mild1EXT2 CL E G H21323513ORPHA:466926Seizures-scoliosis-macrocephaly syndromeHP:0040282 - Frequent102
HP:0001249HP:0001256Intellectual disability, mild1EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0001249HP:0002187Intellectual disability, profound1FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0001249HP:0002342Intellectual disability, moderate1FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040282 - Frequent114
HP:0001249HP:0010864Intellectual disability, severe1FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional114
HP:0001249HP:0001256Intellectual disability, mild1FAT4 CL E G H7963323109OMIM:616006HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2114
HP:0001249HP:0002342Intellectual disability, moderate1FBLN1 CL E G H21923600ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndromeHP:0040282 - Frequent12
HP:0001249HP:0001256Intellectual disability, mild1FBN1 CL E G H22003603ORPHA:3449Weill-Marchesani syndromeHP:0040283 - Occasional1361
HP:0001249HP:0001256Intellectual disability, mild1FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant.1361
HP:0001249HP:0010864Intellectual disability, severe1FCSK CL E G H19725829500OMIM:618324Congenital disorder of glycosylation with defective fucosylation 2
HP:0001249HP:0001256Intellectual disability, mild1FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0001249HP:0001256Intellectual disability, mild1FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 27HP:0040283 - Occasional47
HP:0001249HP:0001256Intellectual disability, mild1FGFR2 CL E G H22633689ORPHA:168624Familial scaphocephaly syndrome, McGillivray typeHP:0040282 - Frequent175
HP:0001249HP:0002342Intellectual disability, moderate1FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional175
HP:0001249HP:0002342Intellectual disability, moderate1FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0001249HP:0002342Intellectual disability, moderate1FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional145
HP:0001249HP:0010864Intellectual disability, severe1FGFR3 CL E G H22613690ORPHA:85165Severe achondroplasia-developmental delay-acanthosis nigricans syndromeHP:0040281 - Very frequent145
HP:0001249HP:0002187Intellectual disability, profound1FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1HP:0040281 - Very frequent145
HP:0001249HP:0002187Intellectual disability, profound1FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I.145
HP:0001249HP:0010864Intellectual disability, severe1FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome.
HP:0001249HP:0002187Intellectual disability, profound1FH CL E G H22713700OMIM:606812Fumarase deficiency.301
HP:0001249HP:0001256Intellectual disability, mild1FIBP CL E G H91583705OMIM:617107Thauvin-Robinet-Faivre syndrome.2
HP:0001249HP:0001256Intellectual disability, mild1FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional157
HP:0001249HP:0010864Intellectual disability, severe1FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional157
HP:0001249HP:0002187Intellectual disability, profound1FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0001249HP:0010864Intellectual disability, severe1FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0001249HP:0002187Intellectual disability, profound1FKRP CL E G H7914717997OMIM:613153MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5.157
HP:0001249HP:0010864Intellectual disability, severe1FKTN CL E G H22183622ORPHA:272Congenital muscular dystrophy, Fukuyama typeHP:0040281 - Very frequent184
HP:0001249HP:0010864Intellectual disability, severe1FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0001249HP:0002187Intellectual disability, profound1FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0001249HP:0001256Intellectual disability, mild1FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome.332
HP:0001249HP:0001256Intellectual disability, mild1FLNA CL E G H23163754OMIM:300049Heterotopia, periventricular, X-linked dominant.493
HP:0001249HP:0001256Intellectual disability, mild1FLNA CL E G H23163754ORPHA:90650Otopalatodigital syndrome type 1HP:0040281 - Very frequent493
HP:0001249HP:0001256Intellectual disability, mild1FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I.493
HP:0001249HP:0002342Intellectual disability, moderate1FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndromeHP:0040282 - Frequent30
HP:0001249HP:0002342Intellectual disability, moderate1FMR1 CL E G H23323775ORPHA:908Fragile X syndromeHP:0040281 - Very frequent30
HP:0001249HP:0001256Intellectual disability, mild1FMR1 CL E G H23323775ORPHA:261483Xq27.3q28 duplication syndromeHP:0040281 - Very frequent30
HP:0001249HP:0010864Intellectual disability, severe1FOXE1 CL E G H23043806ORPHA:95713AthyreosisHP:0040282 - Frequent9
HP:0001249HP:0010864Intellectual disability, severe1FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletionHP:0040281 - Very frequent177
HP:0001249HP:0010864Intellectual disability, severe1FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0001249HP:0010864Intellectual disability, severe1FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0001249HP:0001256Intellectual disability, mild1FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040283 - Occasional184
HP:0001249HP:0002342Intellectual disability, moderate1FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0001249HP:0010864Intellectual disability, severe1FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent61
HP:0001249HP:0001256Intellectual disability, mild1FREM1 CL E G H15832623399OMIM:608980Bifid nose with or without anorectal and renal anomalies198
HP:0001249HP:0010864Intellectual disability, severe1FRMD4A CL E G H5569125491ORPHA:466688Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndromeHP:0040282 - Frequent1
HP:0001249HP:0010864Intellectual disability, severe1FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 374
HP:0001249HP:0010864Intellectual disability, severe1FTCD CL E G H108413974ORPHA:51208Formiminoglutamic aciduriaHP:0040283 - Occasional65
HP:0001249HP:0002342Intellectual disability, moderate1FTSJ1 CL E G H2414013254OMIM:309549Mental retardation, X-linked 913
HP:0001249HP:0010864Intellectual disability, severe1FUCA1 CL E G H25174006ORPHA:349FucosidosisHP:0040281 - Very frequent43
HP:0001249HP:0001256Intellectual disability, mild1FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional109
HP:0001249HP:0001256Intellectual disability, mild1GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional5
HP:0001249HP:0010864Intellectual disability, severe1GABRA5 CL E G H25584079OMIM:618559DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0001249HP:0006889Intellectual disability, borderline1GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional139
HP:0001249HP:0002187Intellectual disability, profound1GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0001249HP:0010864Intellectual disability, severe1GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0001249HP:0001256Intellectual disability, mild1GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040282 - Frequent351
HP:0001249HP:0010864Intellectual disability, severe1GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 291
HP:0001249HP:0010864Intellectual disability, severe1GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiencyHP:0040282 - Frequent91
HP:0001249HP:0001256Intellectual disability, mild1GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndromeHP:0040281 - Very frequent87
HP:0001249HP:0010864Intellectual disability, severe1GATAD2B CL E G H5745930778OMIM:615074Mental retardation, autosomal dominant 1833
HP:0001249HP:0010864Intellectual disability, severe1GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040282 - Frequent33
HP:0001249HP:0001256Intellectual disability, mild1GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticityHP:0040284 - Very rare30
HP:0001249HP:0006887Intellectual disability, progressive1GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B.86
HP:0001249HP:0010864Intellectual disability, severe1GCK CL E G H26454195ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional237
HP:0001249HP:0001256Intellectual disability, mild1GDI1 CL E G H26644226OMIM:300849MENTAL RETARDATION, X-LINKED 41; MRX4120
HP:0001249HP:0010864Intellectual disability, severe1GDI1 CL E G H26644226OMIM:300849MENTAL RETARDATION, X-LINKED 41; MRX4120
HP:0001249HP:0001256Intellectual disability, mild1GLB1 CL E G H27204298OMIM:230650Gm1-gangliosidosis, type III.120
HP:0001249HP:0010864Intellectual disability, severe1GLI3 CL E G H27374319ORPHA:36Acrocallosal syndromeHP:0040281 - Very frequent270
HP:0001249HP:0001256Intellectual disability, mild1GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0001249HP:0001256Intellectual disability, mild1GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndromeHP:0040283 - Occasional270
HP:0001249HP:0001256Intellectual disability, mild1GLRA2 CL E G H27424327OMIM:301076INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0001249HP:0002342Intellectual disability, moderate1GLUD1 CL E G H27464335ORPHA:35878Hyperinsulinism-hyperammonemia syndromeHP:0040282 - Frequent56
HP:0001249HP:0001256Intellectual disability, mild1GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional34
HP:0001249HP:0010864Intellectual disability, severe1GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional34
HP:0001249HP:0010864Intellectual disability, severe1GMPPB CL E G H2992522932OMIM:615350MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14.34
HP:0001249HP:0001256Intellectual disability, mild1GMPPB CL E G H2992522932OMIM:615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14HP:0040283 - Occasional34
HP:0001249HP:0010864Intellectual disability, severe1GNB5 CL E G H106814401ORPHA:542306GNB5-related intellectual disability-cardiac arrhythmia syndromeHP:0040282 - Frequent7
HP:0001249HP:0001256Intellectual disability, mild1GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0001249HP:0001256Intellectual disability, mild1GNE CL E G H1002023657ORPHA:3166SialuriaHP:0040281 - Very frequent173
HP:0001249HP:0001256Intellectual disability, mild1GNPTG CL E G H8457223026OMIM:252605Mucolipidosis III gamma.57
HP:0001249HP:0001256Intellectual disability, mild1GORAB CL E G H9234425676ORPHA:2078Geroderma osteodysplasticaHP:0040283 - Occasional52
HP:0001249HP:0010864Intellectual disability, severe1GOT2 CL E G H28064433OMIM:618721DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0001249HP:0001256Intellectual disability, mild1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent8
HP:0001249HP:0001256Intellectual disability, mild1GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndromeHP:0040282 - Frequent
HP:0001249HP:0001256Intellectual disability, mild1GPSM2 CL E G H2989929501OMIM:604213CHUDLEY-MCCULLOUGH SYNDROME; CMCS74
HP:0001249HP:0010864Intellectual disability, severe1GRIA1 CL E G H28904571OMIM:6199313
HP:0001249HP:0010864Intellectual disability, severe1GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 94.30
HP:0001249HP:0002342Intellectual disability, moderate1GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040282 - Frequent30
HP:0001249HP:0010864Intellectual disability, severe1GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0001249HP:0001256Intellectual disability, mild1GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0001249HP:0002187Intellectual disability, profound1GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040283 - Occasional108
HP:0001249HP:0010864Intellectual disability, severe1GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040282 - Frequent108
HP:0001249HP:0001256Intellectual disability, mild1GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040283 - Occasional108
HP:0001249HP:0002342Intellectual disability, moderate1GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040283 - Occasional108
HP:0001249HP:0010864Intellectual disability, severe1GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.108
HP:0001249HP:0010864Intellectual disability, severe1GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive.108
HP:0001249HP:0010864Intellectual disability, severe1GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationHP:0040282 - Frequent434
HP:0001249HP:0002342Intellectual disability, moderate1GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationHP:0040283 - Occasional434
HP:0001249HP:0006889Intellectual disability, borderline1GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional434
HP:0001249HP:0002342Intellectual disability, moderate1GTF2E2 CL E G H29614651OMIM:616943Trichothiodystrophy 6, nonphotosensitive.2
HP:0001249HP:0001256Intellectual disability, mild1GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 23HP:0040283 - Occasional30
HP:0001249HP:0002187Intellectual disability, profound1GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 40.2
HP:0001249HP:0001256Intellectual disability, mild1H19 CL E G H2831204713ORPHA:2128Isolated hemihyperplasiaHP:0040282 - Frequent4
HP:0001249HP:0001256Intellectual disability, mild1HCN4 CL E G H1002116882OMIM:619521EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18185
HP:0001249HP:0001256Intellectual disability, mild1HDAC6 CL E G H1001314064OMIM:300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.2
HP:0001249HP:0001256Intellectual disability, mild1HDAC6 CL E G H1001314064ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe typeHP:0040282 - Frequent2
HP:0001249HP:0010864Intellectual disability, severe1HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent37
HP:0001249HP:0001256Intellectual disability, mild1HEATR3 CL E G H5502726087OMIM:620072
HP:0001249HP:0001256Intellectual disability, mild1HEPACAM CL E G H22029626361OMIM:604004Megalencephalic leukoencephalopathy with subcortical cysts 1.82
HP:0001249HP:0010864Intellectual disability, severe1HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040281 - Very frequent16
HP:0001249HP:0001256Intellectual disability, mild1HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040284 - Very rare12
HP:0001249HP:0001256Intellectual disability, mild1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent3
HP:0001249HP:0001256Intellectual disability, mild1HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040281 - Very frequent2
HP:0001249HP:0010864Intellectual disability, severe1HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040283 - Occasional35
HP:0001249HP:0001256Intellectual disability, mild1HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040283 - Occasional35
HP:0001249HP:0002342Intellectual disability, moderate1HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040283 - Occasional35
HP:0001249HP:0010864Intellectual disability, severe1HNMT CL E G H31765028OMIM:616739Mental retardation, autosomal recessive 51.3
HP:0001249HP:0010864Intellectual disability, severe1HNRNPH1 CL E G H31875041OMIM:620083
HP:0001249HP:0010864Intellectual disability, severe1HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040282 - Frequent8
HP:0001249HP:0002342Intellectual disability, moderate1HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040282 - Frequent8
HP:0001249HP:0010864Intellectual disability, severe1HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040282 - Frequent8
HP:0001249HP:0002342Intellectual disability, moderate1HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040282 - Frequent8
HP:0001249HP:0010864Intellectual disability, severe1HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndromeHP:0040281 - Very frequent39
HP:0001249HP:0001256Intellectual disability, mild1HPD CL E G H32425147OMIM:276710Tyrosinemia, type III.23
HP:0001249HP:0001256Intellectual disability, mild1HPRT1 CL E G H32515157ORPHA:510Lesch-Nyhan syndromeHP:0040281 - Very frequent76
HP:0001249HP:0002342Intellectual disability, moderate1HPRT1 CL E G H32515157ORPHA:510Lesch-Nyhan syndromeHP:0040281 - Very frequent76
HP:0001249HP:0010864Intellectual disability, severe1HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040283 - Occasional19
HP:0001249HP:0001256Intellectual disability, mild1HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 198
HP:0001249HP:0002187Intellectual disability, profound1HSPD1 CL E G H33295261OMIM:612233Leukodystrophy, hypomyelinating, 4.46
HP:0001249HP:0010864Intellectual disability, severe1HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome.12
HP:0001249HP:0002342Intellectual disability, moderate1HYCC1 CL E G H8466824587ORPHA:85163Hypomyelination-congenital cataract syndromeHP:0040281 - Very frequent
HP:0001249HP:0002187Intellectual disability, profound1IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0001249HP:0002187Intellectual disability, profound1IER3IP1 CL E G H5112418550OMIM:614231Microcephaly, epilepsy, and diabetes syndrome.6
HP:0001249HP:0002187Intellectual disability, profound1IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent28
HP:0001249HP:0001256Intellectual disability, mild1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0001249HP:0006889Intellectual disability, borderline1IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0001249HP:0001256Intellectual disability, mild1IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040281 - Very frequent91
HP:0001249HP:0001256Intellectual disability, mild1IGF2 CL E G H34815466ORPHA:2128Isolated hemihyperplasiaHP:0040282 - Frequent9
HP:0001249HP:0002342Intellectual disability, moderate1IL1RAPL1 CL E G H111415996OMIM:300143Mental retardation, X-linked 2142
HP:0001249HP:0002342Intellectual disability, moderate1INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent111
HP:0001249HP:0002342Intellectual disability, moderate1INPP5E CL E G H5662321474OMIM:610156Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome.111
HP:0001249HP:0010864Intellectual disability, severe1INPP5E CL E G H5662321474ORPHA:75858MORM syndromeHP:0040282 - Frequent111
HP:0001249HP:0001256Intellectual disability, mild1INPP5E CL E G H5662321474ORPHA:75858MORM syndromeHP:0040282 - Frequent111
HP:0001249HP:0002342Intellectual disability, moderate1INPP5E CL E G H5662321474ORPHA:75858MORM syndromeHP:0040282 - Frequent111
HP:0001249HP:0010864Intellectual disability, severe1INS CL E G H36306081ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional62
HP:0001249HP:0010864Intellectual disability, severe1IQSEC1 CL E G H992229112OMIM:618687INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0001249HP:0010864Intellectual disability, severe1IQSEC2 CL E G H2309629059ORPHA:397933Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndromeHP:0040282 - Frequent119
HP:0001249HP:0001256Intellectual disability, mild1ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0001249HP:0001256Intellectual disability, mild1JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1HP:0040283 - Occasional257
HP:0001249HP:0001256Intellectual disability, mild1JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0001249HP:0001256Intellectual disability, mild1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent2
HP:0001249HP:0002342Intellectual disability, moderate1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040282 - Frequent283
HP:0001249HP:0010864Intellectual disability, severe1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0001249HP:0001256Intellectual disability, mild1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040282 - Frequent283
HP:0001249HP:0010864Intellectual disability, severe1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0001249HP:0002342Intellectual disability, moderate1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040282 - Frequent283
HP:0001249HP:0001256Intellectual disability, mild1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040282 - Frequent283
HP:0001249HP:0010864Intellectual disability, severe1KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0001249HP:0010864Intellectual disability, severe1KAT6A CL E G H799413013ORPHA:457193Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndromeHP:0040281 - Very frequent34
HP:0001249HP:0006887Intellectual disability, progressive1KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome.141
HP:0001249HP:0010864Intellectual disability, severe1KAT6B CL E G H2352217582OMIM:603736Ohdo syndrome, sbbys variant.141
HP:0001249HP:0010864Intellectual disability, severe1KCNC2 CL E G H37476234OMIM:619913
HP:0001249HP:0001256Intellectual disability, mild1KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040282 - Frequent17
HP:0001249HP:0010864Intellectual disability, severe1KCNE5 CL E G H236306241ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040281 - Very frequent5
HP:0001249HP:0010864Intellectual disability, severe1KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome.13
HP:0001249HP:0010864Intellectual disability, severe1KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040282 - Frequent13
HP:0001249HP:0010864Intellectual disability, severe1KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1HP:0040283 - Occasional13
HP:0001249HP:0006887Intellectual disability, progressive1KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1HP:0040283 - Occasional13
HP:0001249HP:0010864Intellectual disability, severe1KCNJ11 CL E G H37676257ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional127
HP:0001249HP:0002187Intellectual disability, profound1KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040282 - Frequent3
HP:0001249HP:0010864Intellectual disability, severe1KCNJ6 CL E G H37636267OMIM:614098Keppen-Lubinsky syndrome.3
HP:0001249HP:0001256Intellectual disability, mild1KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040282 - Frequent23
HP:0001249HP:0006889Intellectual disability, borderline1KCNMA1 CL E G H37786284ORPHA:79137Generalized epilepsy-paroxysmal dyskinesia syndromeHP:0040283 - Occasional114
HP:0001249HP:0001256Intellectual disability, mild1KCNQ1OT1 CL E G H109846295ORPHA:2128Isolated hemihyperplasiaHP:0040282 - Frequent1
HP:0001249HP:0001256Intellectual disability, mild1KCNT1 CL E G H5758218865ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare321
HP:0001249HP:0002342Intellectual disability, moderate1KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 65.2
HP:0001249HP:0010864Intellectual disability, severe1KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0001249HP:0010864Intellectual disability, severe1KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutationHP:0040281 - Very frequent81
HP:0001249HP:0001256Intellectual disability, mild1KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 153
HP:0001249HP:0001256Intellectual disability, mild1KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation.46
HP:0001249HP:0010864Intellectual disability, severe1KIF14 CL E G H992819181ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent9
HP:0001249HP:0010864Intellectual disability, severe1KIF1A CL E G H547888ORPHA:2836PEHO syndromeHP:0040281 - Very frequent276
HP:0001249HP:0001256Intellectual disability, mild1KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040283 - Occasional38
HP:0001249HP:0002342Intellectual disability, moderate1KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 10HP:0040283 - Occasional93
HP:0001249HP:0010864Intellectual disability, severe1KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0001249HP:0010864Intellectual disability, severe1KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome.167
HP:0001249HP:0010864Intellectual disability, severe1KIF7 CL E G H37465430497ORPHA:36Acrocallosal syndromeHP:0040281 - Very frequent167
HP:0001249HP:0002342Intellectual disability, moderate1KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0001249HP:0001256Intellectual disability, mild1KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0001249HP:0010864Intellectual disability, severe1KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0001249HP:0010864Intellectual disability, severe1KMT2B CL E G H975715840OMIM:61993411
HP:0001249HP:0001256Intellectual disability, mild1KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset11
HP:0001249HP:0001256Intellectual disability, mild1KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1660
HP:0001249HP:0010864Intellectual disability, severe1KNL1 CL E G H5708224054ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent112
HP:0001249HP:0010864Intellectual disability, severe1L1CAM CL E G H38976470ORPHA:2182Hydrocephalus with stenosis of the aqueduct of SylviusHP:0040281 - Very frequent134
HP:0001249HP:0001256Intellectual disability, mild1L1CAM CL E G H38976470ORPHA:306617X-linked complicated spastic paraplegia type 1HP:0040282 - Frequent134
HP:0001249HP:0002342Intellectual disability, moderate1L1CAM CL E G H38976470ORPHA:306617X-linked complicated spastic paraplegia type 1HP:0040282 - Frequent134
HP:0001249HP:0010864Intellectual disability, severe1L2HGDH CL E G H7994420499OMIM:236792L-2-Hydroxyglutaric aciduria.34
HP:0001249HP:0006887Intellectual disability, progressive1L2HGDH CL E G H7994420499OMIM:236792L-2-Hydroxyglutaric aciduria.34
HP:0001249HP:0010864Intellectual disability, severe1L2HGDH CL E G H7994420499ORPHA:79314L-2-hydroxyglutaric aciduriaHP:0040281 - Very frequent34
HP:0001249HP:0006887Intellectual disability, progressive1L2HGDH CL E G H7994420499ORPHA:79314L-2-hydroxyglutaric aciduriaHP:0040281 - Very frequent34
HP:0001249HP:0002342Intellectual disability, moderate1LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndromeHP:0040281 - Very frequent35
HP:0001249HP:0010864Intellectual disability, severe1LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional136
HP:0001249HP:0002187Intellectual disability, profound1LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0001249HP:0010864Intellectual disability, severe1LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0001249HP:0002187Intellectual disability, profound1LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6.136
HP:0001249HP:0010864Intellectual disability, severe1LARP7 CL E G H5157424912ORPHA:319671Alazami syndromeHP:0040281 - Very frequent16
HP:0001249HP:0010864Intellectual disability, severe1LARP7 CL E G H5157424912OMIM:615071Alazami syndrome.16
HP:0001249HP:0001256Intellectual disability, mild1LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040281 - Very frequent68
HP:0001249HP:0010864Intellectual disability, severe1LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome.2
HP:0001249HP:0010864Intellectual disability, severe1LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0001249HP:0010864Intellectual disability, severe1LINGO1 CL E G H8489421205OMIM:618103Mental retardation, autosomal recessive 64
HP:0001249HP:0010864Intellectual disability, severe1LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent21
HP:0001249HP:0010864Intellectual disability, severe1LMAN2L CL E G H8156219263OMIM:616887Mental retardation, autosomal recessive 521
HP:0001249HP:0010864Intellectual disability, severe1LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040281 - Very frequent165
HP:0001249HP:0002187Intellectual disability, profound1LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040282 - Frequent8
HP:0001249HP:0001256Intellectual disability, mild1LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional125
HP:0001249HP:0001256Intellectual disability, mild1LRP5 CL E G H40416697OMIM:259770Osteoporosis-Pseudoglioma syndrome.125
HP:0001249HP:0002187Intellectual disability, profound1LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent
HP:0001249HP:0001256Intellectual disability, mild1LTBP2 CL E G H40536715ORPHA:3449Weill-Marchesani syndromeHP:0040283 - Occasional123
HP:0001249HP:0002342Intellectual disability, moderate1MAB21L2 CL E G H105866758OMIM:615877Microphthalmia/coloboma and skeletal dysplasia syndromeHP:0040283 - Occasional5
HP:0001249HP:0010864Intellectual disability, severe1MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformation2
HP:0001249HP:0010864Intellectual disability, severe1MACF1 CL E G H2349913664ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome2
HP:0001249HP:0001256Intellectual disability, mild1MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040282 - Frequent63
HP:0001249HP:0006889Intellectual disability, borderline1MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040282 - Frequent63
HP:0001249HP:0006889Intellectual disability, borderline1MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent63
HP:0001249HP:0001256Intellectual disability, mild1MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent63
HP:0001249HP:0002342Intellectual disability, moderate1MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040284 - Very rare63
HP:0001249HP:0001256Intellectual disability, mild1MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional63
HP:0001249HP:0006889Intellectual disability, borderline1MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional63
HP:0001249HP:0002342Intellectual disability, moderate1MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0001249HP:0002342Intellectual disability, moderate1MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional63
HP:0001249HP:0001256Intellectual disability, mild1MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional63
HP:0001249HP:0006889Intellectual disability, borderline1MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional63
HP:0001249HP:0010864Intellectual disability, severe1MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040283 - Occasional93
HP:0001249HP:0002342Intellectual disability, moderate1MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040283 - Occasional93
HP:0001249HP:0001256Intellectual disability, mild1MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040282 - Frequent93
HP:0001249HP:0002342Intellectual disability, moderate1MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0001249HP:0001256Intellectual disability, mild1MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult formHP:0040281 - Very frequent136
HP:0001249HP:0001256Intellectual disability, mild1MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040282 - Frequent136
HP:0001249HP:0001256Intellectual disability, mild1MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 2HP:0040283 - Occasional11
HP:0001249HP:0001256Intellectual disability, mild1MARS1 CL E G H41416898ORPHA:401835Autosomal recessive spastic paraplegia type 70HP:0040282 - Frequent
HP:0001249HP:0001256Intellectual disability, mild1MARS2 CL E G H9293525133ORPHA:314603Autosomal recessive spastic ataxia with leukoencephalopathyHP:0040282 - Frequent25
HP:0001249HP:0001256Intellectual disability, mild1MASP1 CL E G H56486901OMIM:2579203mc syndrome 1.21
HP:0001249HP:0010864Intellectual disability, severe1MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040281 - Very frequent252
HP:0001249HP:0010864Intellectual disability, severe1MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0001249HP:0010864Intellectual disability, severe1MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndromeHP:0040281 - Very frequent22
HP:0001249HP:0001256Intellectual disability, mild1MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3
HP:0001249HP:0010864Intellectual disability, severe1MCM7 CL E G H41766950ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent
HP:0001249HP:0010864Intellectual disability, severe1MCPH1 CL E G H796486954ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent155
HP:0001249HP:0001256Intellectual disability, mild1MECOM CL E G H21223498OMIM:616738RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT24
HP:0001249HP:0001256Intellectual disability, mild1MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional950
HP:0001249HP:0010864Intellectual disability, severe1MECP2 CL E G H42046990OMIM:300673Encephalopathy, neonatal severe, due to mecp2 mutations.950
HP:0001249HP:0006887Intellectual disability, progressive1MECP2 CL E G H42046990OMIM:300673Encephalopathy, neonatal severe, due to mecp2 mutations.950
HP:0001249HP:0010864Intellectual disability, severe1MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0001249HP:0010864Intellectual disability, severe1MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0001249HP:0001256Intellectual disability, mild1MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0001249HP:0010864Intellectual disability, severe1MECP2 CL E G H42046990ORPHA:1762Proximal Xq28 duplication syndromeHP:0040281 - Very frequent950
HP:0001249HP:0002187Intellectual disability, profound1MECP2 CL E G H42046990OMIM:312750Rett syndrome.950
HP:0001249HP:0010864Intellectual disability, severe1MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndromeHP:0040282 - Frequent950
HP:0001249HP:0002342Intellectual disability, moderate1MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndromeHP:0040282 - Frequent950
HP:0001249HP:0002342Intellectual disability, moderate1MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040282 - Frequent228
HP:0001249HP:0002342Intellectual disability, moderate1MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040282 - Frequent74
HP:0001249HP:0002342Intellectual disability, moderate1MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects74
HP:0001249HP:0002187Intellectual disability, profound1MED23 CL E G H94392372OMIM:614249Mental retardation, autosomal recessive 1825
HP:0001249HP:0002342Intellectual disability, moderate1MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0001249HP:0010864Intellectual disability, severe1MEF2C CL E G H42086996ORPHA:2283845q14.3 microdeletion syndromeHP:0040281 - Very frequent132
HP:0001249HP:0010864Intellectual disability, severe1MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20.132
HP:0001249HP:0001256Intellectual disability, mild1MEG3 CL E G H5538414575ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040281 - Very frequent1
HP:0001249HP:0001256Intellectual disability, mild1METTL23 CL E G H12451226988OMIM:615942Mental retardation, autosomal recessive 4413
HP:0001249HP:0010864Intellectual disability, severe1METTL5 CL E G H2908125006ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent
HP:0001249HP:0010864Intellectual disability, severe1METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0001249HP:0010864Intellectual disability, severe1MFSD2A CL E G H8487925897ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent5
HP:0001249HP:0010864Intellectual disability, severe1MFSD2A CL E G H8487925897OMIM:616486Microcephaly 15, primary, autosomal recessive.5
HP:0001249HP:0006887Intellectual disability, progressive1MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0001249HP:0010864Intellectual disability, severe1MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0001249HP:0001256Intellectual disability, mild1MGP CL E G H42567060OMIM:245150Keutel syndrome.33
HP:0001249HP:0001256Intellectual disability, mild1MGP CL E G H42567060ORPHA:85202Keutel syndromeHP:0040282 - Frequent33
HP:0001249HP:0001256Intellectual disability, mild1MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0001249HP:0001256Intellectual disability, mild1MID1 CL E G H42817095OMIM:300000Opitz gbbb syndrome, type I57
HP:0001249HP:0001256Intellectual disability, mild1MLC1 CL E G H2320917082OMIM:604004Megalencephalic leukoencephalopathy with subcortical cysts 1.112
HP:0001249HP:0010864Intellectual disability, severe1MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0001249HP:0001256Intellectual disability, mild1MSMO1 CL E G H630710545OMIM:616834Microcephaly, congenital cataract, and psoriasiform dermatitis.3
HP:0001249HP:0001256Intellectual disability, mild1MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040282 - Frequent
HP:0001249HP:0001256Intellectual disability, mild1MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0001249HP:0010864Intellectual disability, severe1MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent29
HP:0001249HP:0001256Intellectual disability, mild1MTHFD1 CL E G H45227432OMIM:617780Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia.5
HP:0001249HP:0010864Intellectual disability, severe1MTOR CL E G H24753942ORPHA:99802HemimegalencephalyHP:0040283 - Occasional68
HP:0001249HP:0001256Intellectual disability, mild1MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55HP:0040282 - Frequent
HP:0001249HP:0006887Intellectual disability, progressive1MTRR CL E G H45527473OMIM:236270Homocystinuria-megaloblastic anemia, cbl E type.88
HP:0001249HP:0001256Intellectual disability, mild1MTSS2 CL E G H9215425094OMIM:620086
HP:0001249HP:0001256Intellectual disability, mild1MYCN CL E G H46137559OMIM:164280Feingold syndrome 135
HP:0001249HP:0010864Intellectual disability, severe1NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataractHP:0040282 - Frequent1
HP:0001249HP:0002187Intellectual disability, profound1NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataractHP:0040282 - Frequent1
HP:0001249HP:0010864Intellectual disability, severe1NAGA CL E G H46687631ORPHA:79279Alpha-N-acetylgalactosaminidase deficiency type 1HP:0040281 - Very frequent47
HP:0001249HP:0001256Intellectual disability, mild1NAGA CL E G H46687631ORPHA:79280Alpha-N-acetylgalactosaminidase deficiency type 2HP:0040281 - Very frequent47
HP:0001249HP:0001256Intellectual disability, mild1NAGA CL E G H46687631OMIM:609242Kanzaki disease.47
HP:0001249HP:0010864Intellectual disability, severe1NAGA CL E G H46687631OMIM:609241Schindler disease, type I.47
HP:0001249HP:0010864Intellectual disability, severe1NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040281 - Very frequent48
HP:0001249HP:0010864Intellectual disability, severe1NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type.8
HP:0001249HP:0002187Intellectual disability, profound1NAPB CL E G H6390815751OMIM:6200332
HP:0001249HP:0001256Intellectual disability, mild1NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24HP:0040283 - Occasional34
HP:0001249HP:0002342Intellectual disability, moderate1NCAPD2 CL E G H991824305OMIM:617983Microcephaly 21, primary, autosomal recessive.
HP:0001249HP:0010864Intellectual disability, severe1NCAPD3 CL E G H2331028952ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent1
HP:0001249HP:0002342Intellectual disability, moderate1NCAPH CL E G H233971112OMIM:617985Microcephaly 23, primary, autosomal recessive.
HP:0001249HP:0002187Intellectual disability, profound1NDE1 CL E G H5482017619OMIM:614019Lissencephaly 4.96
HP:0001249HP:0006887Intellectual disability, progressive1NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY.96
HP:0001249HP:0010864Intellectual disability, severe1NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY.96
HP:0001249HP:0001256Intellectual disability, mild1NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent
HP:0001249HP:0006889Intellectual disability, borderline1NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent
HP:0001249HP:0002342Intellectual disability, moderate1NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040284 - Very rare
HP:0001249HP:0006889Intellectual disability, borderline1NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional
HP:0001249HP:0001256Intellectual disability, mild1NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional
HP:0001249HP:0002342Intellectual disability, moderate1NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0001249HP:0001256Intellectual disability, mild1NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional
HP:0001249HP:0006889Intellectual disability, borderline1NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional
HP:0001249HP:0002342Intellectual disability, moderate1NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional
HP:0001249HP:0001256Intellectual disability, mild1NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional39
HP:0001249HP:0006887Intellectual disability, progressive1NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040282 - Frequent39
HP:0001249HP:0006887Intellectual disability, progressive1NDP CL E G H46937678OMIM:310600Norrie disease.39
HP:0001249HP:0010864Intellectual disability, severe1NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent91
HP:0001249HP:0010864Intellectual disability, severe1NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent7
HP:0001249HP:0010864Intellectual disability, severe1NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent3
HP:0001249HP:0010864Intellectual disability, severe1NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent19
HP:0001249HP:0010864Intellectual disability, severe1NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent4
HP:0001249HP:0010864Intellectual disability, severe1NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0001249HP:0010864Intellectual disability, severe1NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent26
HP:0001249HP:0010864Intellectual disability, severe1NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent34
HP:0001249HP:0002342Intellectual disability, moderate1NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0001249HP:0010864Intellectual disability, severe1NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent39
HP:0001249HP:0010864Intellectual disability, severe1NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent81
HP:0001249HP:0010864Intellectual disability, severe1NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent65
HP:0001249HP:0010864Intellectual disability, severe1NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent22
HP:0001249HP:0010864Intellectual disability, severe1NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0001249HP:0010864Intellectual disability, severe1NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent38
HP:0001249HP:0010864Intellectual disability, severe1NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent42
HP:0001249HP:0010864Intellectual disability, severe1NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent74
HP:0001249HP:0010864Intellectual disability, severe1NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0001249HP:0010864Intellectual disability, severe1NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent
HP:0001249HP:0010864Intellectual disability, severe1NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 2HP:0040284 - Very rare43
HP:0001249HP:0001256Intellectual disability, mild1NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I.1952
HP:0001249HP:0001256Intellectual disability, mild1NFE2L2 CL E G H47807782OMIM:617744Immunodeficiency, developmental delay, and hypohomocysteinemia.20
HP:0001249HP:0010864Intellectual disability, severe1NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040283 - Occasional40
HP:0001249HP:0002342Intellectual disability, moderate1NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040282 - Frequent40
HP:0001249HP:0010864Intellectual disability, severe1NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndromeHP:0040283 - Occasional40
HP:0001249HP:0002342Intellectual disability, moderate1NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndromeHP:0040282 - Frequent40
HP:0001249HP:0001256Intellectual disability, mild1NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndromeHP:0040283 - Occasional40
HP:0001249HP:0002342Intellectual disability, moderate1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0001249HP:0001256Intellectual disability, mild1NGF CL E G H48037808ORPHA:64752Hereditary sensory and autonomic neuropathy type 5HP:0040282 - Frequent20
HP:0001249HP:0001256Intellectual disability, mild1NGF CL E G H48037808OMIM:608654Neuropathy, hereditary sensory and autonomic, type VHP:0040283 - Occasional20
HP:0001249HP:0002187Intellectual disability, profound1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040282 - Frequent32
HP:0001249HP:0002342Intellectual disability, moderate1NHS CL E G H48107820OMIM:302350Nance-Horan syndrome88
HP:0001249HP:0010864Intellectual disability, severe1NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber typeHP:0040282 - Frequent55
HP:0001249HP:0010864Intellectual disability, severe1NIN CL E G H5119914906OMIM:614851Seckel syndrome 7.55
HP:0001249HP:0010864Intellectual disability, severe1NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent494
HP:0001249HP:0010864Intellectual disability, severe1NKX2-1 CL E G H708011825ORPHA:95713AthyreosisHP:0040282 - Frequent51
HP:0001249HP:0001256Intellectual disability, mild1NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040283 - Occasional51
HP:0001249HP:0010864Intellectual disability, severe1NKX2-5 CL E G H14822488ORPHA:95713AthyreosisHP:0040282 - Frequent90
HP:0001249HP:0006887Intellectual disability, progressive1NKX2-5 CL E G H14822488OMIM:225250Hypothyroidism, congenital, nongoitrous, 5.90
HP:0001249HP:0010864Intellectual disability, severe1NKX2-5 CL E G H14822488OMIM:225250Hypothyroidism, congenital, nongoitrous, 5.90
HP:0001249HP:0010864Intellectual disability, severe1NKX2-5 CL E G H14822488ORPHA:95712Thyroid ectopiaHP:0040282 - Frequent90
HP:0001249HP:0001256Intellectual disability, mild1NLGN4X CL E G H5750214287OMIM:300495Autism, susceptibility to, X-linked 257
HP:0001249HP:0001256Intellectual disability, mild1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040282 - Frequent10
HP:0001249HP:0001256Intellectual disability, mild1NR4A2 CL E G H49297981OMIM:61991127
HP:0001249HP:0006889Intellectual disability, borderline1NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0001249HP:0010864Intellectual disability, severe1NRXN1 CL E G H93788008OMIM:614325Pitt-Hopkins-Like syndrome 2.470
HP:0001249HP:0001256Intellectual disability, mild1NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040282 - Frequent544
HP:0001249HP:0010864Intellectual disability, severe1NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040283 - Occasional544
HP:0001249HP:0002342Intellectual disability, moderate1NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040283 - Occasional544
HP:0001249HP:0010864Intellectual disability, severe1NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent118
HP:0001249HP:0010864Intellectual disability, severe1NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome.118
HP:0001249HP:0001256Intellectual disability, mild1NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects.34
HP:0001249HP:0002187Intellectual disability, profound1NSF CL E G H49058016OMIM:619340DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0001249HP:0002342Intellectual disability, moderate1NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 584
HP:0001249HP:0001256Intellectual disability, mild1NTN1 CL E G H94238029ORPHA:238722Familial congenital mirror movementsHP:0040284 - Very rare
HP:0001249HP:0001256Intellectual disability, mild1NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional1
HP:0001249HP:0001256Intellectual disability, mild1NTRK1 CL E G H49148031ORPHA:64752Hereditary sensory and autonomic neuropathy type 5HP:0040282 - Frequent97
HP:0001249HP:0010864Intellectual disability, severe1NTRK2 CL E G H49158032OMIM:617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE588
HP:0001249HP:0006889Intellectual disability, borderline1NUDT2 CL E G H3188049OMIM:619844
HP:0001249HP:0001256Intellectual disability, mild1NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent7
HP:0001249HP:0010864Intellectual disability, severe1OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent121
HP:0001249HP:0006889Intellectual disability, borderline1OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent121
HP:0001249HP:0002342Intellectual disability, moderate1OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040284 - Very rare121
HP:0001249HP:0001256Intellectual disability, mild1OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent121
HP:0001249HP:0001256Intellectual disability, mild1OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional121
HP:0001249HP:0006889Intellectual disability, borderline1OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional121
HP:0001249HP:0002342Intellectual disability, moderate1OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0001249HP:0001256Intellectual disability, mild1OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional121
HP:0001249HP:0006889Intellectual disability, borderline1OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional121
HP:0001249HP:0002342Intellectual disability, moderate1OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional121
HP:0001249HP:0002187Intellectual disability, profound1OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria.23
HP:0001249HP:0002187Intellectual disability, profound1OFD1 CL E G H84812567OMIM:300804Joubert syndrome 10.201
HP:0001249HP:0006887Intellectual disability, progressive1OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2.201
HP:0001249HP:0010864Intellectual disability, severe1OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2.201
HP:0001249HP:0002342Intellectual disability, moderate1OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndromeHP:0040282 - Frequent55
HP:0001249HP:0010864Intellectual disability, severe1OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndromeHP:0040282 - Frequent55
HP:0001249HP:0001256Intellectual disability, mild1ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0001249HP:0010864Intellectual disability, severe1OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040281 - Very frequent4
HP:0001249HP:0010864Intellectual disability, severe1OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0001249HP:0002187Intellectual disability, profound1P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0001249HP:0001256Intellectual disability, mild1PAFAH1B1 CL E G H50488574ORPHA:95232Lissencephaly due to LIS1 mutationHP:0040283 - Occasional231
HP:0001249HP:0010864Intellectual disability, severe1PAFAH1B1 CL E G H50488574ORPHA:95232Lissencephaly due to LIS1 mutationHP:0040282 - Frequent231
HP:0001249HP:0002187Intellectual disability, profound1PAFAH1B1 CL E G H50488574ORPHA:95232Lissencephaly due to LIS1 mutationHP:0040283 - Occasional231
HP:0001249HP:0010864Intellectual disability, severe1PAH CL E G H50538582ORPHA:79254Classic phenylketonuriaHP:0040281 - Very frequent641
HP:0001249HP:0010864Intellectual disability, severe1PAK1 CL E G H50588590OMIM:618158Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0001249HP:0010864Intellectual disability, severe1PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0001249HP:0002342Intellectual disability, moderate1PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0001249HP:0010864Intellectual disability, severe1PAX8 CL E G H78498622ORPHA:95713AthyreosisHP:0040282 - Frequent63
HP:0001249HP:0010864Intellectual disability, severe1PAX8 CL E G H78498622ORPHA:95712Thyroid ectopiaHP:0040282 - Frequent63
HP:0001249HP:0010864Intellectual disability, severe1PAX8 CL E G H78498622ORPHA:95720Thyroid hypoplasiaHP:0040282 - Frequent63
HP:0001249HP:0002187Intellectual disability, profound1PCDH12 CL E G H512948657OMIM:251280Microcephaly, seizures, spasticity, and brain calcifications.
HP:0001249HP:0002187Intellectual disability, profound1PCDH19 CL E G H5752614270ORPHA:101039Female restricted epilepsy with intellectual disabilityHP:0040283 - Occasional225
HP:0001249HP:0002342Intellectual disability, moderate1PCDH19 CL E G H5752614270ORPHA:101039Female restricted epilepsy with intellectual disabilityHP:0040283 - Occasional225
HP:0001249HP:0001256Intellectual disability, mild1PCDH19 CL E G H5752614270ORPHA:101039Female restricted epilepsy with intellectual disabilityHP:0040283 - Occasional225
HP:0001249HP:0010864Intellectual disability, severe1PCDH19 CL E G H5752614270ORPHA:101039Female restricted epilepsy with intellectual disabilityHP:0040283 - Occasional225
HP:0001249HP:0001256Intellectual disability, mild1PCNA CL E G H51118729ORPHA:438134PCNA-related progressive neurodegenerative photosensitivity syndromeHP:0040282 - Frequent1
HP:0001249HP:0010864Intellectual disability, severe1PCNA CL E G H51118729ORPHA:438134PCNA-related progressive neurodegenerative photosensitivity syndromeHP:0040283 - Occasional1
HP:0001249HP:0002342Intellectual disability, moderate1PDE2A CL E G H51388777OMIM:619150INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0001249HP:0010864Intellectual disability, severe1PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent88
HP:0001249HP:0002187Intellectual disability, profound1PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040282 - Frequent88
HP:0001249HP:0010864Intellectual disability, severe1PDHX CL E G H805021350ORPHA:255182Pyruvate dehydrogenase E3-binding protein deficiencyHP:0040283 - Occasional98
HP:0001249HP:0001256Intellectual disability, mild1PDSS1 CL E G H2359017759OMIM:614651Coenzyme Q10 deficiency, primary, 2.40
HP:0001249HP:0010864Intellectual disability, severe1PDX1 CL E G H36516107ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional30
HP:0001249HP:0010864Intellectual disability, severe1PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent6
HP:0001249HP:0006887Intellectual disability, progressive1PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0001249HP:0010864Intellectual disability, severe1PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0001249HP:0001256Intellectual disability, mild1PEX10 CL E G H51928851ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiencyHP:0040282 - Frequent75
HP:0001249HP:0001256Intellectual disability, mild1PEX11B CL E G H87998853OMIM:614920Peroxisome biogenesis disorder 14B4
HP:0001249HP:0010864Intellectual disability, severe1PEX5 CL E G H58309719OMIM:616716RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP599
HP:0001249HP:0010864Intellectual disability, severe1PEX7 CL E G H51918860ORPHA:773Refsum diseaseHP:0040282 - Frequent72
HP:0001249HP:0001256Intellectual disability, mild1PGAP1 CL E G H8005525712ORPHA:401820Autosomal recessive spastic paraplegia type 67HP:0040282 - Frequent20
HP:0001249HP:0002342Intellectual disability, moderate1PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0001249HP:0010864Intellectual disability, severe1PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0001249HP:0010864Intellectual disability, severe1PGAP2 CL E G H2731517893OMIM:614207Hyperphosphatasia with mental retardation syndrome 3.8
HP:0001249HP:0001256Intellectual disability, mild1PGAP2 CL E G H2731517893OMIM:614207Hyperphosphatasia with mental retardation syndrome 3HP:0040283 - Occasional8
HP:0001249HP:0002342Intellectual disability, moderate1PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0001249HP:0010864Intellectual disability, severe1PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0001249HP:0010864Intellectual disability, severe1PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0001249HP:0002342Intellectual disability, moderate1PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0001249HP:0002342Intellectual disability, moderate1PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040282 - Frequent15
HP:0001249HP:0010864Intellectual disability, severe1PHC1 CL E G H19113182ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent16
HP:0001249HP:0010864Intellectual disability, severe1PHF6 CL E G H8429518145OMIM:301900Borjeson-Forssman-Lehmann syndrome.29
HP:0001249HP:0001256Intellectual disability, mild1PHF8 CL E G H2313320672OMIM:300263Siderius X-linked mental retardation syndrome23
HP:0001249HP:0001256Intellectual disability, mild1PHF8 CL E G H2313320672ORPHA:85287X-linked intellectual disability, Siderius typeHP:0040281 - Very frequent23
HP:0001249HP:0010864Intellectual disability, severe1PHYH CL E G H52648940ORPHA:773Refsum diseaseHP:0040282 - Frequent45
HP:0001249HP:0001256Intellectual disability, mild1PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 3HP:0040284 - Very rare77
HP:0001249HP:0010864Intellectual disability, severe1PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001249HP:0002187Intellectual disability, profound1PIGG CL E G H5487225985OMIM:616917Mental retardation, autosomal recessive 537
HP:0001249HP:0010864Intellectual disability, severe1PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent7
HP:0001249HP:0010864Intellectual disability, severe1PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0001249HP:0002342Intellectual disability, moderate1PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0001249HP:0010864Intellectual disability, severe1PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0001249HP:0002342Intellectual disability, moderate1PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0001249HP:0002187Intellectual disability, profound1PIGP CL E G H512273046OMIM:617599Epileptic encephalopathy, early infantile, 55.2
HP:0001249HP:0010864Intellectual disability, severe1PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040281 - Very frequent12
HP:0001249HP:0002187Intellectual disability, profound1PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0001249HP:0010864Intellectual disability, severe1PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0001249HP:0010864Intellectual disability, severe1PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation.57
HP:0001249HP:0002342Intellectual disability, moderate1PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0001249HP:0010864Intellectual disability, severe1PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0001249HP:0010864Intellectual disability, severe1PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0001249HP:0002342Intellectual disability, moderate1PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0001249HP:0010864Intellectual disability, severe1PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0001249HP:0002342Intellectual disability, moderate1PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0001249HP:0001256Intellectual disability, mild1PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5162
HP:0001249HP:0010864Intellectual disability, severe1PIK3CA CL E G H52908975ORPHA:99802HemimegalencephalyHP:0040283 - Occasional162
HP:0001249HP:0002187Intellectual disability, profound1PIK3R2 CL E G H52968980OMIM:603387Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome.12
HP:0001249HP:0001256Intellectual disability, mild1PITRM1 CL E G H1053117663OMIM:619405SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR301
HP:0001249HP:0010864Intellectual disability, severe1PLEKHG2 CL E G H6485729515OMIM:616763Leukodystrophy and acquired microcephaly with or without dystonia.3
HP:0001249HP:0002342Intellectual disability, moderate1PLP1 CL E G H53549086ORPHA:280234Null syndromeHP:0040283 - Occasional60
HP:0001249HP:0001256Intellectual disability, mild1PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic formHP:0040281 - Very frequent60
HP:0001249HP:0010864Intellectual disability, severe1PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal formHP:0040281 - Very frequent60
HP:0001249HP:0010864Intellectual disability, severe1PLP1 CL E G H53549086ORPHA:280224Pelizaeus-Merzbacher disease, transitional formHP:0040282 - Frequent60
HP:0001249HP:0002342Intellectual disability, moderate1PLP1 CL E G H53549086ORPHA:280224Pelizaeus-Merzbacher disease, transitional formHP:0040282 - Frequent60
HP:0001249HP:0001256Intellectual disability, mild1PLP1 CL E G H53549086OMIM:312920Spastic paraplegia 2, X-linked60
HP:0001249HP:0010864Intellectual disability, severe1PNKP CL E G H112849154OMIM:613402Microcephaly, seizures, and developmental delay244
HP:0001249HP:0001256Intellectual disability, mild1PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040283 - Occasional65
HP:0001249HP:0001256Intellectual disability, mild1PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome103
HP:0001249HP:0010864Intellectual disability, severe1POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040283 - Occasional35
HP:0001249HP:0001256Intellectual disability, mild1POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040282 - Frequent35
HP:0001249HP:0001256Intellectual disability, mild1POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch typeHP:0040281 - Very frequent2
HP:0001249HP:0001256Intellectual disability, mild1POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138
HP:0001249HP:0002342Intellectual disability, moderate1POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0001249HP:0002342Intellectual disability, moderate1POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism67
HP:0001249HP:0001256Intellectual disability, mild1POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism.67
HP:0001249HP:0001256Intellectual disability, mild1POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional180
HP:0001249HP:0002187Intellectual disability, profound1POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.180
HP:0001249HP:0010864Intellectual disability, severe1POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.180
HP:0001249HP:0001256Intellectual disability, mild1POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional18
HP:0001249HP:0006889Intellectual disability, borderline1POMK CL E G H8419726267OMIM:616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1218
HP:0001249HP:0001256Intellectual disability, mild1POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional213
HP:0001249HP:0010864Intellectual disability, severe1POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional213
HP:0001249HP:0010864Intellectual disability, severe1POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0001249HP:0002187Intellectual disability, profound1POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0001249HP:0010864Intellectual disability, severe1POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1.213
HP:0001249HP:0001256Intellectual disability, mild1POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional221
HP:0001249HP:0010864Intellectual disability, severe1POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional221
HP:0001249HP:0002187Intellectual disability, profound1POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0001249HP:0010864Intellectual disability, severe1POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0001249HP:0010864Intellectual disability, severe1POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2.221
HP:0001249HP:0002187Intellectual disability, profound1POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2.221
HP:0001249HP:0001256Intellectual disability, mild1POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndromeHP:0040282 - Frequent40
HP:0001249HP:0001256Intellectual disability, mild1POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040281 - Very frequent
HP:0001249HP:0010864Intellectual disability, severe1PPIL1 CL E G H516459260OMIM:619301PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0001249HP:0002342Intellectual disability, moderate1PPM1B CL E G H54959276ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent
HP:0001249HP:0010864Intellectual disability, severe1PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 22
HP:0001249HP:0010864Intellectual disability, severe1PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0001249HP:0010864Intellectual disability, severe1PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 3613
HP:0001249HP:0010864Intellectual disability, severe1PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040282 - Frequent10
HP:0001249HP:0002342Intellectual disability, moderate1PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040282 - Frequent10
HP:0001249HP:0001256Intellectual disability, mild1PQBP1 CL E G H100849330ORPHA:93945X-linked intellectual disability, Porteous typeHP:0040281 - Very frequent28
HP:0001249HP:0001256Intellectual disability, mild1PQBP1 CL E G H100849330ORPHA:93950X-linked intellectual disability, Sutherland-Haan typeHP:0040283 - Occasional28
HP:0001249HP:0010864Intellectual disability, severe1PQBP1 CL E G H100849330ORPHA:93950X-linked intellectual disability, Sutherland-Haan typeHP:0040282 - Frequent28
HP:0001249HP:0002342Intellectual disability, moderate1PREPL CL E G H958130228ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent7
HP:0001249HP:0001256Intellectual disability, mild1PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040282 - Frequent6
HP:0001249HP:0002342Intellectual disability, moderate1PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040283 - Occasional6
HP:0001249HP:0010864Intellectual disability, severe1PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040282 - Frequent6
HP:0001249HP:0001256Intellectual disability, mild1PRPS1 CL E G H56319462ORPHA:1187Lethal ataxia with deafness and optic atrophyHP:0040282 - Frequent49
HP:0001249HP:0002342Intellectual disability, moderate1PRPS1 CL E G H56319462ORPHA:1187Lethal ataxia with deafness and optic atrophyHP:0040282 - Frequent49
HP:0001249HP:0002187Intellectual disability, profound1PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040281 - Very frequent49
HP:0001249HP:0001256Intellectual disability, mild1PRRT2 CL E G H11247630500ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040284 - Very rare94
HP:0001249HP:0010864Intellectual disability, severe1PRSS12 CL E G H84929477OMIM:249500Mental retardation, autosomal recessive 173
HP:0001249HP:0002187Intellectual disability, profound1PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies8
HP:0001249HP:0010864Intellectual disability, severe1PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0001249HP:0010864Intellectual disability, severe1PSMB1 CL E G H56899537OMIM:6200382
HP:0001249HP:0001256Intellectual disability, mild1PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0001249HP:0010864Intellectual disability, severe1PSMC1 CL E G H57009547OMIM:6200711
HP:0001249HP:0001256Intellectual disability, mild1PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040281 - Very frequent4
HP:0001249HP:0002342Intellectual disability, moderate1PSPH CL E G H57239577ORPHA:793503-phosphoserine phosphatase deficiency, infantile/juvenile formHP:0040282 - Frequent54
HP:0001249HP:0002342Intellectual disability, moderate1PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism.6
HP:0001249HP:0010864Intellectual disability, severe1PTEN CL E G H57289588ORPHA:101070Bilateral frontoparietal polymicrogyriaHP:0040282 - Frequent948
HP:0001249HP:0001256Intellectual disability, mild1PTEN CL E G H57289588OMIM:158350Cowden syndrome 1.948
HP:0001249HP:0001256Intellectual disability, mild1PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional948
HP:0001249HP:0001256Intellectual disability, mild1PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1.291
HP:0001249HP:0001256Intellectual disability, mild1PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional291
HP:0001249HP:0002342Intellectual disability, moderate1PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040281 - Very frequent6
HP:0001249HP:0006887Intellectual disability, progressive1PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A.19
HP:0001249HP:0002342Intellectual disability, moderate1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040281 - Very frequent19
HP:0001249HP:0010864Intellectual disability, severe1PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletionHP:0040282 - Frequent53
HP:0001249HP:0002187Intellectual disability, profound1PUS3 CL E G H8348025461OMIM:617051MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT551
HP:0001249HP:0010864Intellectual disability, severe1PUS3 CL E G H8348025461OMIM:617051MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT551
HP:0001249HP:0002187Intellectual disability, profound1PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeHP:0040282 - Frequent1
HP:0001249HP:0001256Intellectual disability, mild1PYCR1 CL E G H58319721ORPHA:2078Geroderma osteodysplasticaHP:0040283 - Occasional53
HP:0001249HP:0010864Intellectual disability, severe1PYCR2 CL E G H2992030262ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent11
HP:0001249HP:0010864Intellectual disability, severe1RAB18 CL E G H2293114244ORPHA:2510Micro syndromeHP:0040281 - Very frequent85
HP:0001249HP:0002187Intellectual disability, profound1RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0001249HP:0001256Intellectual disability, mild1RAB39B CL E G H11644216499OMIM:311510Waisman syndrome34
HP:0001249HP:0010864Intellectual disability, severe1RAB3GAP1 CL E G H2293017063OMIM:619420MARTSOLF SYNDROME 2; MARTS290
HP:0001249HP:0010864Intellectual disability, severe1RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndromeHP:0040281 - Very frequent90
HP:0001249HP:0001256Intellectual disability, mild1RAB3GAP2 CL E G H2578217168ORPHA:401830Autosomal recessive spastic paraplegia type 69HP:0040282 - Frequent135
HP:0001249HP:0006887Intellectual disability, progressive1RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1.135
HP:0001249HP:0010864Intellectual disability, severe1RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1.135
HP:0001249HP:0010864Intellectual disability, severe1RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndromeHP:0040281 - Very frequent135
HP:0001249HP:0010864Intellectual disability, severe1RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2.135
HP:0001249HP:0010864Intellectual disability, severe1RAB5IF CL E G H5596915870OMIM:616994
HP:0001249HP:0010864Intellectual disability, severe1RAC3 CL E G H58819803OMIM:618577NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF1
HP:0001249HP:0010864Intellectual disability, severe1RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent25
HP:0001249HP:0001256Intellectual disability, mild1RAD51 CL E G H58889817ORPHA:238722Familial congenital mirror movementsHP:0040284 - Very rare9
HP:0001249HP:0001256Intellectual disability, mild1RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional212
HP:0001249HP:0001256Intellectual disability, mild1RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndromeHP:0040281 - Very frequent150
HP:0001249HP:0001256Intellectual disability, mild1RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent
HP:0001249HP:0002342Intellectual disability, moderate1RBMX CL E G H273169910OMIM:300238MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS112
HP:0001249HP:0001256Intellectual disability, mild1RBPJ CL E G H35165724OMIM:614814Adams-Oliver syndrome 33
HP:0001249HP:0001256Intellectual disability, mild1RCBTB1 CL E G H5521318243OMIM:617175RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA8
HP:0001249HP:0002342Intellectual disability, moderate1RDH11 CL E G H5110917964ORPHA:436245Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0001249HP:0010864Intellectual disability, severe1RFT1 CL E G H9186930220OMIM:612015Congenital disorder of glycosylation, type IN.92
HP:0001249HP:0002187Intellectual disability, profound1RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent33
HP:0001249HP:0002187Intellectual disability, profound1RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent34
HP:0001249HP:0002187Intellectual disability, profound1RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent60
HP:0001249HP:0002187Intellectual disability, profound1RNF113A CL E G H773712974OMIM:300953Trichothiodystrophy 5, nonphotosensitive.3
HP:0001249HP:0002187Intellectual disability, profound1RNF13 CL E G H1134210057OMIM:618379DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0001249HP:0002187Intellectual disability, profound1RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001249HP:0001256Intellectual disability, mild1RNF135 CL E G H8428221158ORPHA:137634Overgrowth-macrocephaly-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0001249HP:0010864Intellectual disability, severe1RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0001249HP:0001256Intellectual disability, mild1RNU4ATAC CL E G H10015168334016OMIM:226960EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS15
HP:0001249HP:0001256Intellectual disability, mild1RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0001249HP:0002342Intellectual disability, moderate1RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0001249HP:0002187Intellectual disability, profound1RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent
HP:0001249HP:0010864Intellectual disability, severe1ROGDI CL E G H7964129478ORPHA:1946Amelocerebrohypohidrotic syndromeHP:0040281 - Very frequent57
HP:0001249HP:0010864Intellectual disability, severe1ROGDI CL E G H7964129478OMIM:226750Kohlschutter-Tonz syndrome.57
HP:0001249HP:0002342Intellectual disability, moderate1RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent167
HP:0001249HP:0010864Intellectual disability, severe1RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040281 - Very frequent10
HP:0001249HP:0001256Intellectual disability, mild1RPS6KA3 CL E G H619710432OMIM:300844MENTAL RETARDATION, X-LINKED 19; MRX1965
HP:0001249HP:0001256Intellectual disability, mild1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0001249HP:0001256Intellectual disability, mild1RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040282 - Frequent2
HP:0001249HP:0002342Intellectual disability, moderate1RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040283 - Occasional2
HP:0001249HP:0001256Intellectual disability, mild1RTL1 CL E G H38801514665ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040281 - Very frequent
HP:0001249HP:0001256Intellectual disability, mild1RTN4IP1 CL E G H8481618647OMIM:616732OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA102
HP:0001249HP:0010864Intellectual disability, severe1RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040282 - Frequent113
HP:0001249HP:0002342Intellectual disability, moderate1RTTN CL E G H2591418654OMIM:614833Microcephaly, short stature, and polymicrogyria with or without seizures113
HP:0001249HP:0001256Intellectual disability, mild1RUBCN CL E G H971128991OMIM:615705SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR159
HP:0001249HP:0001256Intellectual disability, mild1RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional1200
HP:0001249HP:0002187Intellectual disability, profound1SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent55
HP:0001249HP:0001256Intellectual disability, mild1SARDH CL E G H175710536ORPHA:3129SarcosinemiaHP:0040283 - Occasional4
HP:0001249HP:0002342Intellectual disability, moderate1SARS1 CL E G H630110537OMIM:617709Neurodevelopmental disorder with microcephaly, ataxia, and seizures.
HP:0001249HP:0010864Intellectual disability, severe1SASS6 CL E G H16378625403ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent4
HP:0001249HP:0010864Intellectual disability, severe1SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001249HP:0010864Intellectual disability, severe1SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040281 - Very frequent34
HP:0001249HP:0010864Intellectual disability, severe1SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040282 - Frequent34
HP:0001249HP:0010864Intellectual disability, severe1SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040282 - Frequent34
HP:0001249HP:0002342Intellectual disability, moderate1SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040282 - Frequent34
HP:0001249HP:0001256Intellectual disability, mild1SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 1.26
HP:0001249HP:0002187Intellectual disability, profound1SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0001249HP:0010864Intellectual disability, severe1SCN1A CL E G H632310585OMIM:607208Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)1053
HP:0001249HP:0002342Intellectual disability, moderate1SCN1A CL E G H632310585OMIM:607208Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)1053
HP:0001249HP:0006889Intellectual disability, borderline1SCN3A CL E G H632810590OMIM:617935Epilepsy, familial focal, with variable foci 470
HP:0001249HP:0001256Intellectual disability, mild1SCN8A CL E G H633410596OMIM:614306Cognitive impairment with or without cerebellar ataxia357
HP:0001249HP:0006889Intellectual disability, borderline1SCN8A CL E G H633410596OMIM:614306Cognitive impairment with or without cerebellar ataxia357
HP:0001249HP:0002187Intellectual disability, profound1SCN8A CL E G H633410596OMIM:614558Epileptic encephalopathy, early infantile, 13357
HP:0001249HP:0010864Intellectual disability, severe1SCN8A CL E G H633410596OMIM:614558Epileptic encephalopathy, early infantile, 13357
HP:0001249HP:0001256Intellectual disability, mild1SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040282 - Frequent5
HP:0001249HP:0001256Intellectual disability, mild1SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 21HP:0040283 - Occasional5
HP:0001249HP:0001256Intellectual disability, mild1SDCCAG8 CL E G H1080610671OMIM:613615SENIOR-LOKEN SYNDROME 7; SLSN761
HP:0001249HP:0010864Intellectual disability, severe1SDHA CL E G H638910680ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent304
HP:0001249HP:0001256Intellectual disability, mild1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0001249HP:0001256Intellectual disability, mild1SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunctionHP:0040282 - Frequent
HP:0001249HP:0001256Intellectual disability, mild1SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0001249HP:0010864Intellectual disability, severe1SEMA5A CL E G H903710736ORPHA:281Monosomy 5pHP:0040281 - Very frequent6
HP:0001249HP:0010864Intellectual disability, severe1SEMA6B CL E G H1050110739OMIM:618876EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0001249HP:0002187Intellectual disability, profound1SEPSECS CL E G H5109130605OMIM:613811Pontocerebellar hypoplasia, type 2D.66
HP:0001249HP:0002187Intellectual disability, profound1SETBP1 CL E G H2604015573ORPHA:436151Intellectual disability-expressive aphasia-facial dysmorphism syndromeHP:0040283 - Occasional143
HP:0001249HP:0001256Intellectual disability, mild1SETBP1 CL E G H2604015573ORPHA:436151Intellectual disability-expressive aphasia-facial dysmorphism syndromeHP:0040282 - Frequent143
HP:0001249HP:0002342Intellectual disability, moderate1SETBP1 CL E G H2604015573ORPHA:436151Intellectual disability-expressive aphasia-facial dysmorphism syndromeHP:0040283 - Occasional143
HP:0001249HP:0010864Intellectual disability, severe1SETBP1 CL E G H2604015573ORPHA:436151Intellectual disability-expressive aphasia-facial dysmorphism syndromeHP:0040283 - Occasional143
HP:0001249HP:0001256Intellectual disability, mild1SETD1B CL E G H2306729187OMIM:619000INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0001249HP:0002187Intellectual disability, profound1SETD1B CL E G H2306729187OMIM:619000INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0001249HP:0001256Intellectual disability, mild1SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040282 - Frequent60
HP:0001249HP:0010864Intellectual disability, severe1SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040283 - Occasional60
HP:0001249HP:0002342Intellectual disability, moderate1SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040283 - Occasional60
HP:0001249HP:0001256Intellectual disability, mild1SFXN4 CL E G H11955916088OMIM:615578Combined oxidative phosphorylation deficiency 18.17
HP:0001249HP:0001256Intellectual disability, mild1SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0001249HP:0002342Intellectual disability, moderate1SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome.53
HP:0001249HP:0001256Intellectual disability, mild1SHH CL E G H646910848OMIM:147250Solitary median maxillary central incisor67
HP:0001249HP:0010864Intellectual disability, severe1SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001249HP:0002342Intellectual disability, moderate1SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001249HP:0010864Intellectual disability, severe1SHROOM4 CL E G H5747729215ORPHA:85288X-linked intellectual disability, Stocco Dos Santos typeHP:0040282 - Frequent42
HP:0001249HP:0001256Intellectual disability, mild1SIN3A CL E G H2594219353ORPHA:500166SIN3A-related intellectual disability syndrome due to a point mutationHP:0040281 - Very frequent9
HP:0001249HP:0001256Intellectual disability, mild1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome.9
HP:0001249HP:0010864Intellectual disability, severe1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0001249HP:0001256Intellectual disability, mild1SIN3B CL E G H2330919354ORPHA:500166SIN3A-related intellectual disability syndrome due to a point mutationHP:0040281 - Very frequent
HP:0001249HP:0001256Intellectual disability, mild1SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040282 - Frequent
HP:0001249HP:0001256Intellectual disability, mild1SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040282 - Frequent
HP:0001249HP:0010864Intellectual disability, severe1SLC12A2 CL E G H655810911OMIM:619080KILQUIST SYNDROME; KILQS2
HP:0001249HP:0001256Intellectual disability, mild1SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy163
HP:0001249HP:0010864Intellectual disability, severe1SLC13A5 CL E G H28411123089ORPHA:1946Amelocerebrohypohidrotic syndromeHP:0040281 - Very frequent73
HP:0001249HP:0002187Intellectual disability, profound1SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040283 - Occasional57
HP:0001249HP:0010864Intellectual disability, severe1SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome.57
HP:0001249HP:0001256Intellectual disability, mild1SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040283 - Occasional57
HP:0001249HP:0002342Intellectual disability, moderate1SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040283 - Occasional57
HP:0001249HP:0010864Intellectual disability, severe1SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040283 - Occasional57
HP:0001249HP:0006887Intellectual disability, progressive1SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome.57
HP:0001249HP:0001256Intellectual disability, mild1SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 22
HP:0001249HP:0010864Intellectual disability, severe1SLC19A3 CL E G H8070416266ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent110
HP:0001249HP:0002187Intellectual disability, profound1SLC1A2 CL E G H650610940OMIM:617105Epileptic encephalopathy, early infantile, 41.3
HP:0001249HP:0010864Intellectual disability, severe1SLC1A2 CL E G H650610940OMIM:617105Epileptic encephalopathy, early infantile, 413
HP:0001249HP:0001256Intellectual disability, mild1SLC25A24 CL E G H2995720662ORPHA:2095Gorlin-Chaudhry-Moss syndromeHP:0040283 - Occasional
HP:0001249HP:0001256Intellectual disability, mild1SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0001249HP:0010864Intellectual disability, severe1SLC26A4 CL E G H51728818ORPHA:95713AthyreosisHP:0040282 - Frequent274
HP:0001249HP:0010864Intellectual disability, severe1SLC26A4 CL E G H51728818ORPHA:95720Thyroid hypoplasiaHP:0040282 - Frequent274
HP:0001249HP:0001256Intellectual disability, mild1SLC29A3 CL E G H5531523096ORPHA:168569H syndromeHP:0040283 - Occasional68
HP:0001249HP:0001256Intellectual disability, mild1SLC2A1 CL E G H651311005ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040284 - Very rare255
HP:0001249HP:0010864Intellectual disability, severe1SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040282 - Frequent27
HP:0001249HP:0010864Intellectual disability, severe1SLC35A3 CL E G H2344311023ORPHA:370943Autism spectrum disorder-epilepsy-arthrogryposis syndromeHP:0040283 - Occasional2
HP:0001249HP:0002342Intellectual disability, moderate1SLC35A3 CL E G H2344311023ORPHA:370943Autism spectrum disorder-epilepsy-arthrogryposis syndromeHP:0040283 - Occasional2
HP:0001249HP:0001256Intellectual disability, mild1SLC35A3 CL E G H2344311023ORPHA:370943Autism spectrum disorder-epilepsy-arthrogryposis syndromeHP:0040282 - Frequent2
HP:0001249HP:0006887Intellectual disability, progressive1SLC35C1 CL E G H5534320197OMIM:266265Congenital disorder of glycosylation, type IIc.71
HP:0001249HP:0010864Intellectual disability, severe1SLC35C1 CL E G H5534320197OMIM:266265Congenital disorder of glycosylation, type IIc.71
HP:0001249HP:0010864Intellectual disability, severe1SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040282 - Frequent71
HP:0001249HP:0002187Intellectual disability, profound1SLC39A8 CL E G H6411620862OMIM:616721Congenital disorder of glycosylation, type IIN.11
HP:0001249HP:0002187Intellectual disability, profound1SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDGHP:0040281 - Very frequent11
HP:0001249HP:0002342Intellectual disability, moderate1SLC3A1 CL E G H651911025ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent55
HP:0001249HP:0002342Intellectual disability, moderate1SLC45A1 CL E G H5065117939OMIM:617532Intellectual developmental disorder with neuropsychiatric features.2
HP:0001249HP:0010864Intellectual disability, severe1SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 48.12
HP:0001249HP:0010864Intellectual disability, severe1SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeHP:0040282 - Frequent12
HP:0001249HP:0002187Intellectual disability, profound1SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndromeHP:0040281 - Very frequent93
HP:0001249HP:0010864Intellectual disability, severe1SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type.93
HP:0001249HP:0006887Intellectual disability, progressive1SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type.93
HP:0001249HP:0001256Intellectual disability, mild1SMARCA2 CL E G H659511098ORPHA:2728Blepharophimosis-intellectual disability syndrome, Ohdo typeHP:0040281 - Very frequent146
HP:0001249HP:0010864Intellectual disability, severe1SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome.146
HP:0001249HP:0002342Intellectual disability, moderate1SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent617
HP:0001249HP:0010864Intellectual disability, severe1SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent617
HP:0001249HP:0002342Intellectual disability, moderate1SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent87
HP:0001249HP:0010864Intellectual disability, severe1SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent87
HP:0001249HP:0010864Intellectual disability, severe1SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent1
HP:0001249HP:0002342Intellectual disability, moderate1SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent1
HP:0001249HP:0002342Intellectual disability, moderate1SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0001249HP:0010864Intellectual disability, severe1SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0001249HP:0002342Intellectual disability, moderate1SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent47
HP:0001249HP:0010864Intellectual disability, severe1SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent47
HP:0001249HP:0001256Intellectual disability, mild1SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional135
HP:0001249HP:0010864Intellectual disability, severe1SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent135
HP:0001249HP:0010864Intellectual disability, severe1SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent91
HP:0001249HP:0010864Intellectual disability, severe1SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040282 - Frequent15
HP:0001249HP:0002342Intellectual disability, moderate1SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040282 - Frequent15
HP:0001249HP:0001256Intellectual disability, mild1SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040283 - Occasional19
HP:0001249HP:0002187Intellectual disability, profound1SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040284 - Very rare19
HP:0001249HP:0010864Intellectual disability, severe1SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome.94
HP:0001249HP:0006887Intellectual disability, progressive1SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome.94
HP:0001249HP:0006887Intellectual disability, progressive1SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0001249HP:0010864Intellectual disability, severe1SNRPN CL E G H663811164OMIM:105830Angelman syndrome.37
HP:0001249HP:0002342Intellectual disability, moderate1SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040284 - Very rare37
HP:0001249HP:0006889Intellectual disability, borderline1SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent37
HP:0001249HP:0001256Intellectual disability, mild1SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent37
HP:0001249HP:0002342Intellectual disability, moderate1SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0001249HP:0006889Intellectual disability, borderline1SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional37
HP:0001249HP:0001256Intellectual disability, mild1SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional37
HP:0001249HP:0006889Intellectual disability, borderline1SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional37
HP:0001249HP:0001256Intellectual disability, mild1SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional37
HP:0001249HP:0002342Intellectual disability, moderate1SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional37
HP:0001249HP:0010864Intellectual disability, severe1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0001249HP:0001256Intellectual disability, mild1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040282 - Frequent37
HP:0001249HP:0010864Intellectual disability, severe1SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040281 - Very frequent14
HP:0001249HP:0010864Intellectual disability, severe1SOBP CL E G H5508429256OMIM:613671Mental retardation, anterior maxillary protrusion, and strabismus.29
HP:0001249HP:0010864Intellectual disability, severe1SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040282 - Frequent12
HP:0001249HP:0010864Intellectual disability, severe1SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0001249HP:0002342Intellectual disability, moderate1SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent14
HP:0001249HP:0010864Intellectual disability, severe1SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent14
HP:0001249HP:0001256Intellectual disability, mild1SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 27.14
HP:0001249HP:0001256Intellectual disability, mild1SOX3 CL E G H665811199OMIM:300123Mental retardation, X-linked, with isolated growth hormone deficiency.24
HP:0001249HP:0010864Intellectual disability, severe1SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0001249HP:0002342Intellectual disability, moderate1SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0001249HP:0001256Intellectual disability, mild1SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0001249HP:0010864Intellectual disability, severe1SPATA5 CL E G H16637818119OMIM:616577Epilepsy, hearing loss, and mental retardation syndrome.19
HP:0001249HP:0002342Intellectual disability, moderate1SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040282 - Frequent19
HP:0001249HP:0010864Intellectual disability, severe1SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040282 - Frequent19
HP:0001249HP:0001256Intellectual disability, mild1SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional20
HP:0001249HP:0001256Intellectual disability, mild1SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040281 - Very frequent287
HP:0001249HP:0001256Intellectual disability, mild1SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0001249HP:0002187Intellectual disability, profound1SPTAN1 CL E G H670911273OMIM:613477Epileptic encephalopathy, early infantile, 5.416
HP:0001249HP:0010864Intellectual disability, severe1SPTAN1 CL E G H670911273OMIM:613477Epileptic encephalopathy, early infantile, 5.416
HP:0001249HP:0001256Intellectual disability, mild1SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxiaHP:0040282 - Frequent126
HP:0001249HP:0010864Intellectual disability, severe1SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0001249HP:0002342Intellectual disability, moderate1SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040282 - Frequent138
HP:0001249HP:0001256Intellectual disability, mild1SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040282 - Frequent138
HP:0001249HP:0010864Intellectual disability, severe1SRD5A3 CL E G H7964425812OMIM:612713Kahrizi syndrome.80
HP:0001249HP:0006887Intellectual disability, progressive1SRD5A3 CL E G H7964425812OMIM:612713Kahrizi syndrome.80
HP:0001249HP:0001256Intellectual disability, mild1SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1.
HP:0001249HP:0006889Intellectual disability, borderline1SRPX2 CL E G H2728630668ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional50
HP:0001249HP:0001256Intellectual disability, mild1SRPX2 CL E G H2728630668OMIM:300643Rolandic epilepsy, mental retardation, and speech dyspraxia.50
HP:0001249HP:0001256Intellectual disability, mild1SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040283 - Occasional23
HP:0001249HP:0002187Intellectual disability, profound1ST3GAL3 CL E G H648710866OMIM:615006Epileptic encephalopathy, early infantile, 15.41
HP:0001249HP:0001256Intellectual disability, mild1STAC3 CL E G H24632928423ORPHA:168572Native American myopathyHP:0040284 - Very rare14
HP:0001249HP:0010864Intellectual disability, severe1STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeHP:0040283 - Occasional9
HP:0001249HP:0002342Intellectual disability, moderate1STAG2 CL E G H1073511355ORPHA:521258Xq25 microduplication syndromeHP:0040282 - Frequent1
HP:0001249HP:0010864Intellectual disability, severe1STAT3 CL E G H677411364ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional110
HP:0001249HP:0010864Intellectual disability, severe1STIL CL E G H649110879ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent99
HP:0001249HP:0010864Intellectual disability, severe1STIL CL E G H649110879OMIM:612703Microcephaly 7, primary, autosomal recessive99
HP:0001249HP:0002187Intellectual disability, profound1STRA6 CL E G H6422030650OMIM:601186Microphthalmia, syndromic 9.71
HP:0001249HP:0010864Intellectual disability, severe1STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040281 - Very frequent237
HP:0001249HP:0010864Intellectual disability, severe1STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4.237
HP:0001249HP:0002187Intellectual disability, profound1STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4237
HP:0001249HP:0006887Intellectual disability, progressive1SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0001249HP:0006887Intellectual disability, progressive1SUCLA2 CL E G H880311448ORPHA:1933Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduriaHP:0040281 - Very frequent66
HP:0001249HP:0010864Intellectual disability, severe1SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0001249HP:0001256Intellectual disability, mild1SUFU CL E G H5168416466OMIM:617757Joubert syndrome 32.124
HP:0001249HP:0010864Intellectual disability, severe1SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA40
HP:0001249HP:0010864Intellectual disability, severe1SURF1 CL E G H683411474ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent73
HP:0001249HP:0001256Intellectual disability, mild1SYN1 CL E G H685311494OMIM:300115Mental retardation, X-linked 50.58
HP:0001249HP:0002342Intellectual disability, moderate1SYNGAP1 CL E G H883111497OMIM:612621Mental retardation, autosomal dominant 5108
HP:0001249HP:0002342Intellectual disability, moderate1SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040282 - Frequent108
HP:0001249HP:0010864Intellectual disability, severe1SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040282 - Frequent108
HP:0001249HP:0002187Intellectual disability, profound1SYNJ1 CL E G H886711503OMIM:617389Epileptic encephalopathy, early infantile, 53.9
HP:0001249HP:0001256Intellectual disability, mild1TAC3 CL E G H686611521OMIM:614839Hypogonadotropic hypogonadism 10 with or without anosmiaHP:0040283 - Occasional6
HP:0001249HP:0010864Intellectual disability, severe1TACO1 CL E G H5120424316ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent23
HP:0001249HP:0002342Intellectual disability, moderate1TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040282 - Frequent21
HP:0001249HP:0010864Intellectual disability, severe1TAF13 CL E G H688411546ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent2
HP:0001249HP:0001256Intellectual disability, mild1TAF13 CL E G H688411546OMIM:617432Mental retardation, autosomal recessive 60.2
HP:0001249HP:0010864Intellectual disability, severe1TBC1D20 CL E G H12863716133ORPHA:2510Micro syndromeHP:0040281 - Very frequent15
HP:0001249HP:0002187Intellectual disability, profound1TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0001249HP:0010864Intellectual disability, severe1TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0001249HP:0010864Intellectual disability, severe1TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0001249HP:0006889Intellectual disability, borderline1TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional271
HP:0001249HP:0001256Intellectual disability, mild1TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional271
HP:0001249HP:0002342Intellectual disability, moderate1TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional271
HP:0001249HP:0001256Intellectual disability, mild1TBC1D2B CL E G H2310229183ORPHA:397973Intellectual disability-obesity-prognathism-eye and skin anomalies syndromeHP:0040282 - Frequent
HP:0001249HP:0002187Intellectual disability, profound1TBC1D2B CL E G H2310229183ORPHA:397973Intellectual disability-obesity-prognathism-eye and skin anomalies syndromeHP:0040283 - Occasional
HP:0001249HP:0001256Intellectual disability, mild1TBC1D2B CL E G H2310229183OMIM:619323NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0001249HP:0002342Intellectual disability, moderate1TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040283 - Occasional16
HP:0001249HP:0002187Intellectual disability, profound1TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040282 - Frequent16
HP:0001249HP:0010864Intellectual disability, severe1TBR1 CL E G H1071611590OMIM:606053Intellectual developmental disorder with autism and speech delay1
HP:0001249HP:0001256Intellectual disability, mild1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent32
HP:0001249HP:0001256Intellectual disability, mild1TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities1
HP:0001249HP:0002342Intellectual disability, moderate1TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040281 - Very frequent241
HP:0001249HP:0006887Intellectual disability, progressive1TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0001249HP:0010864Intellectual disability, severe1TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0001249HP:0010864Intellectual disability, severe1TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040281 - Very frequent12
HP:0001249HP:0001256Intellectual disability, mild1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0001249HP:0001256Intellectual disability, mild1TFAP2B CL E G H702111743OMIM:169100Char syndrome.104
HP:0001249HP:0010864Intellectual disability, severe1TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0001249HP:0002342Intellectual disability, moderate1TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 35HP:0040283 - Occasional58
HP:0001249HP:0001256Intellectual disability, mild1TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040283 - Occasional80
HP:0001249HP:0001256Intellectual disability, mild1THG1L CL E G H5497426053OMIM:618800SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0001249HP:0001256Intellectual disability, mild1THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040282 - Frequent5
HP:0001249HP:0010864Intellectual disability, severe1THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040283 - Occasional5
HP:0001249HP:0002342Intellectual disability, moderate1THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040282 - Frequent5
HP:0001249HP:0010864Intellectual disability, severe1THOC6 CL E G H7922828369ORPHA:363444THOC6-related developmental delay-microcephaly-facial dysmorphism syndromeHP:0040282 - Frequent1
HP:0001249HP:0010864Intellectual disability, severe1TIMM50 CL E G H9260923656ORPHA:5052163-methylglutaconic aciduria type 9HP:0040281 - Very frequent1
HP:0001249HP:0010864Intellectual disability, severe1TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX.1
HP:0001249HP:0001256Intellectual disability, mild1TIMM8A CL E G H167811817OMIM:304700Mohr-Tranebjaerg syndrome15
HP:0001249HP:0006887Intellectual disability, progressive1TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type).103
HP:0001249HP:0001256Intellectual disability, mild1TKT CL E G H708611834ORPHA:488618Transketolase deficiencyHP:0040282 - Frequent4
HP:0001249HP:0010864Intellectual disability, severe1TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI.4
HP:0001249HP:0010864Intellectual disability, severe1TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 3HP:0040282 - Frequent33
HP:0001249HP:0010864Intellectual disability, severe1TMEM237 CL E G H6506214432OMIM:614424Joubert syndrome 14.82
HP:0001249HP:0001256Intellectual disability, mild1TMEM63C CL E G H5715623787OMIM:619966
HP:0001249HP:0002342Intellectual disability, moderate1TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0001249HP:0002342Intellectual disability, moderate1TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent166
HP:0001249HP:0002342Intellectual disability, moderate1TMEM70 CL E G H5496826050ORPHA:1194TMEM70-related mitochondrial encephalo-cardio-myopathyHP:0040281 - Very frequent63
HP:0001249HP:0010864Intellectual disability, severe1TMX2 CL E G H5107530739OMIM:618730NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS2
HP:0001249HP:0006889Intellectual disability, borderline1TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional
HP:0001249HP:0006887Intellectual disability, progressive1TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type.
HP:0001249HP:0010864Intellectual disability, severe1TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0001249HP:0002342Intellectual disability, moderate1TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0001249HP:0010864Intellectual disability, severe1TRAPPC10 CL E G H710911868OMIM:6200271
HP:0001249HP:0010864Intellectual disability, severe1TRAPPC10 CL E G H710911868ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent1
HP:0001249HP:0006889Intellectual disability, borderline1TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R18HP:0040282 - Frequent27
HP:0001249HP:0010864Intellectual disability, severe1TRAPPC14 CL E G H5526225604ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent
HP:0001249HP:0002187Intellectual disability, profound1TRAPPC4 CL E G H5139919943OMIM:618741NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA1
HP:0001249HP:0010864Intellectual disability, severe1TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy.
HP:0001249HP:0010864Intellectual disability, severe1TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeHP:0040281 - Very frequent158
HP:0001249HP:0002187Intellectual disability, profound1TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent56
HP:0001249HP:0002187Intellectual disability, profound1TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 1.56
HP:0001249HP:0001256Intellectual disability, mild1TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0001249HP:0010864Intellectual disability, severe1TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0001249HP:0006889Intellectual disability, borderline1TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0001249HP:0001256Intellectual disability, mild1TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040281 - Very frequent8
HP:0001249HP:0010864Intellectual disability, severe1TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0001249HP:0002342Intellectual disability, moderate1TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040283 - Occasional
HP:0001249HP:0001256Intellectual disability, mild1TRNL1 CL E G H45677490ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040283 - Occasional
HP:0001249HP:0001256Intellectual disability, mild1TRNL2 CL E G H45687491ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040283 - Occasional
HP:0001249HP:0001256Intellectual disability, mild1TRNN CL E G H45707493ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040283 - Occasional
HP:0001249HP:0001256Intellectual disability, mild1TRNS1 CL E G H45747497ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040283 - Occasional
HP:0001249HP:0010864Intellectual disability, severe1TSHB CL E G H725212372OMIM:275100Hypothyroidism, congenital, nongoitrous, 4.9
HP:0001249HP:0006887Intellectual disability, progressive1TSHB CL E G H725212372OMIM:275100Hypothyroidism, congenital, nongoitrous, 4.9
HP:0001249HP:0010864Intellectual disability, severe1TSHR CL E G H725312373ORPHA:95713AthyreosisHP:0040282 - Frequent97
HP:0001249HP:0010864Intellectual disability, severe1TSHR CL E G H725312373ORPHA:95720Thyroid hypoplasiaHP:0040282 - Frequent97
HP:0001249HP:0001256Intellectual disability, mild1TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional39
HP:0001249HP:0001256Intellectual disability, mild1TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040283 - Occasional2
HP:0001249HP:0002342Intellectual disability, moderate1TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 3911
HP:0001249HP:0010864Intellectual disability, severe1TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 3911
HP:0001249HP:0002342Intellectual disability, moderate1TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0001249HP:0010864Intellectual disability, severe1TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeHP:0040281 - Very frequent11
HP:0001249HP:0001256Intellectual disability, mild1TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional7128
HP:0001249HP:0010864Intellectual disability, severe1TUBA1A CL E G H784620766OMIM:611603Lissencephaly 3.106
HP:0001249HP:0010864Intellectual disability, severe1TUSC3 CL E G H799130242OMIM:611093Mental retardation, autosomal recessive 776
HP:0001249HP:0002342Intellectual disability, moderate1TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional18
HP:0001249HP:0002342Intellectual disability, moderate1TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18
HP:0001249HP:0010864Intellectual disability, severe1UBA5 CL E G H7987623230OMIM:617132Epileptic encephalopathy, early infantile, 44.13
HP:0001249HP:0002342Intellectual disability, moderate1UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040283 - Occasional7
HP:0001249HP:0010864Intellectual disability, severe1UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040282 - Frequent7
HP:0001249HP:0010864Intellectual disability, severe1UBE3A CL E G H733712496OMIM:105830Angelman syndrome.278
HP:0001249HP:0006887Intellectual disability, progressive1UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0001249HP:0001256Intellectual disability, mild1UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040282 - Frequent278
HP:0001249HP:0010864Intellectual disability, severe1UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent278
HP:0001249HP:0010864Intellectual disability, severe1UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0001249HP:0010864Intellectual disability, severe1UBE4A CL E G H935412499OMIM:619639NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS1
HP:0001249HP:0002187Intellectual disability, profound1UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040282 - Frequent1
HP:0001249HP:0010864Intellectual disability, severe1UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040282 - Frequent1
HP:0001249HP:0002187Intellectual disability, profound1UBTF CL E G H734312511OMIM:617672Neurodegeneration, childhood-onset, with brain atrophy.1
HP:0001249HP:0001256Intellectual disability, mild1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0001249HP:0002187Intellectual disability, profound1UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0001249HP:0002187Intellectual disability, profound1UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2.23
HP:0001249HP:0010864Intellectual disability, severe1UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040281 - Very frequent23
HP:0001249HP:0001256Intellectual disability, mild1UPF3B CL E G H6510920439OMIM:300676MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS1433
HP:0001249HP:0010864Intellectual disability, severe1UQCRQ CL E G H2708929594OMIM:615159Mitochondrial complex III deficiency, nuclear type 4.34
HP:0001249HP:0002342Intellectual disability, moderate1UROC1 CL E G H13166926444OMIM:276880Urocanase deficiency8
HP:0001249HP:0002342Intellectual disability, moderate1USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040281 - Very frequent27
HP:0001249HP:0002187Intellectual disability, profound1VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy.
HP:0001249HP:0001256Intellectual disability, mild1VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4HP:0040284 - Very rare
HP:0001249HP:0001256Intellectual disability, mild1VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0001249HP:0002342Intellectual disability, moderate1VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0001249HP:0010864Intellectual disability, severe1VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0001249HP:0002187Intellectual disability, profound1VPS53 CL E G H5527525608OMIM:615851Pontocerebellar hypoplasia, type 2E.26
HP:0001249HP:0001256Intellectual disability, mild1VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0001249HP:0001256Intellectual disability, mild1WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040281 - Very frequent20
HP:0001249HP:0002342Intellectual disability, moderate1WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040282 - Frequent2
HP:0001249HP:0002187Intellectual disability, profound1WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040283 - Occasional2
HP:0001249HP:0010864Intellectual disability, severe1WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0001249HP:0002187Intellectual disability, profound1WASHC4 CL E G H2332529174OMIM:615817Mental retardation, autosomal recessive 4325
HP:0001249HP:0002342Intellectual disability, moderate1WDFY3 CL E G H2300120751OMIM:617520Microcephaly 18, primary, autosomal dominant.6
HP:0001249HP:0001256Intellectual disability, mild1WDFY3 CL E G H2300120751OMIM:617520Microcephaly 18, primary, autosomal dominant.6
HP:0001249HP:0002187Intellectual disability, profound1WDR45B CL E G H5627025072OMIM:617977Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures.1
HP:0001249HP:0001256Intellectual disability, mild1WDR48 CL E G H5759930914ORPHA:401800Autosomal recessive spastic paraplegia type 60HP:0040282 - Frequent1
HP:0001249HP:0010864Intellectual disability, severe1WDR62 CL E G H28440324502ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent224
HP:0001249HP:0010864Intellectual disability, severe1WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224
HP:0001249HP:0002342Intellectual disability, moderate1WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224
HP:0001249HP:0006887Intellectual disability, progressive1WDR81 CL E G H12499726600OMIM:610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2.27
HP:0001249HP:0010864Intellectual disability, severe1WDR81 CL E G H12499726600OMIM:610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2.27
HP:0001249HP:0010864Intellectual disability, severe1WIPI2 CL E G H2610032225OMIM:618453Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0001249HP:0006887Intellectual disability, progressive1XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent34
HP:0001249HP:0006887Intellectual disability, progressive1XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent86
HP:0001249HP:0002342Intellectual disability, moderate1XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDGHP:0040282 - Frequent14
HP:0001249HP:0010864Intellectual disability, severe1YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0001249HP:0002342Intellectual disability, moderate1YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040282 - Frequent7
HP:0001249HP:0001256Intellectual disability, mild1YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040282 - Frequent7
HP:0001249HP:0006889Intellectual disability, borderline1YY1AP1 CL E G H5524930935ORPHA:79094Grange syndromeHP:0040281 - Very frequent5
HP:0001249HP:0002342Intellectual disability, moderate1ZBTB11 CL E G H2710716740OMIM:618383Intellectual developmental disorder, autosomal recessive 69
HP:0001249HP:0010864Intellectual disability, severe1ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 2216
HP:0001249HP:0001256Intellectual disability, mild1ZC4H2 CL E G H5590624931ORPHA:3454Intellectual disability-developmental delay-contractures syndromeHP:0040281 - Very frequent19
HP:0001249HP:0001256Intellectual disability, mild1ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0001249HP:0010864Intellectual disability, severe1ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0001249HP:0001256Intellectual disability, mild1ZFR CL E G H5166317277ORPHA:401840Autosomal recessive spastic paraplegia type 71HP:0040282 - Frequent1
HP:0001249HP:0001256Intellectual disability, mild1ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001249HP:0001256Intellectual disability, mild1ZMYND11 CL E G H1077116966OMIM:616083Mental retardation, autosomal dominant 30.24
HP:0001249HP:0010864Intellectual disability, severe1ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68
HP:0001249HP:0001256Intellectual disability, mild1ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional14
HP:0001249HP:0001256Intellectual disability, mild1ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0001249HP:0002342Intellectual disability, moderate1ZNF711 CL E G H755213128OMIM:300803MENTAL RETARDATION, X-LINKED 97; MRX9734
HP:0001249HP:0010864Intellectual disability, severe1ZNHIT3 CL E G H932612309ORPHA:2836PEHO syndromeHP:0040281 - Very frequent1
HP:0001249HP:0002187Intellectual disability, profound1ZNHIT3 CL E G H932612309OMIM:260565Peho syndrome1


Genes (1916) :AAAS AARS1 AASS ABCA2 ABCA4 ABCA7 ABCC8 ABCC9 ABCD1 ABHD16A ABHD5 ACAT1 ACD ACER3 ACO2 ACOX1 ACOX2 ACP5 ACSL4 ACTA2 ACTB ACTG1 ACTL6B ACVR1 ADAM22 ADAMTS10 ADAMTS3 ADAR ADARB1 ADAT3 ADCY3 ADCY5 ADGRG1 ADGRL1 ADH5 ADNP ADRA2B ADSL AFF2 AFF3 AFF4 AFG3L2 AGA AGBL5 AGGF1 AGL AGO2 AGPAT2 AGRN AHCY AHDC1 AHI1 AHR AHSG AIFM1 AIMP2 AIPL1 AKT1 AKT3 ALAD ALDH18A1 ALDH3A2 ALDH4A1 ALDH5A1 ALDH7A1 ALDOA ALDOB ALG1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG9 ALKBH8 ALOX12B ALOXE3 ALX1 ALX3 ALX4 AMER1 AMMECR1 AMT ANAPC1 ANK1 ANK3 ANKLE2 ANKRD11 ANO10 ANTXR1 AP1B1 AP1G1 AP1S1 AP1S2 AP2M1 AP3B1 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC APC2 APP AQP2 ARCN1 ARFGEF2 ARG1 ARHGAP31 ARHGDIA ARHGEF18 ARHGEF2 ARHGEF9 ARID1A ARID1B ARID2 ARL13B ARL2BP ARL3 ARL6 ARMC9 ARNT2 ARPC4 ARSA ARSI ARV1 ARVCF ARX ASAH1 ASCL1 ASH1L ASL ASPM ASS1 ASXL1 ASXL2 ASXL3 ATAD1 ATAD3A ATIC ATL1 ATN1 ATP13A2 ATP1A2 ATP1A3 ATP2A2 ATP2B1 ATP5F1E ATP6 ATP6AP1 ATP6AP2 ATP6V0A1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATP7B ATP8A2 ATR ATRIP ATRX AUTS2 AVPR2 B3GALNT2 B3GALT6 B3GLCT B4GALNT1 B4GAT1 B9D1 B9D2 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAP31 BCAS3 BCKDHA BCKDHB BCKDK BCL11A BCL11B BCL7B BCOR BCORL1 BCR BCS1L BDNF BEST1 BICD2 BICRA BIN1 BLM BLTP1 BMPR1A BPTF BRAF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BRPF1 BRWD3 BSCL2 BSND BTD BUB1 BUB1B BUB3 BUD23 C12ORF4 C12ORF57 C2CD3 CA2 CA4 CA8 CABP4 CACNA1A CACNA1B CACNA1C CACNA1D CACNA1G CACNA1H CACNA2D1 CACNG2 CAMK2A CAMK2B CAMK2G CAMKMT CAMTA1 CANT1 CARS1 CARS2 CASK CASZ1 CAV1 CAVIN1 CBS CBY1 CC2D1A CC2D2A CCBE1 CCDC22 CCDC28B CCDC78 CCDC88A CCDC88C CD96 CDC40 CDC42 CDC42BPB CDC45 CDC6 CDCA7 CDH11 CDH15 CDH2 CDH23 CDHR1 CDK10 CDK13 CDK19 CDK5RAP2 CDK6 CDK8 CDKL5 CDON CDT1 CELF2 CENPE CENPJ CEP104 CEP120 CEP135 CEP152 CEP19 CEP290 CEP41 CEP57 CEP63 CEP83 CEP85L CERKL CERS1 CERT1 CFAP418 CHAMP1 CHAT CHD1 CHD2 CHD4 CHD5 CHD7 CHD8 CHKB CHMP1A CHP1 CHRNA2 CHRNA4 CHRNA7 CHRNB2 CHST14 CHSY1 CIB2 CIC CISD2 CIT CKAP2L CLCN3 CLCN4 CLCNKA CLCNKB CLDN11 CLIC2 CLIP2 CLN3 CLN5 CLN8 CLP1 CLPB CLRN1 CLTC CLTRN CNGA1 CNGB1 CNKSR2 CNNM2 CNOT1 CNOT3 CNPY3 CNTN2 CNTNAP2 COA8 COG1 COG2 COG5 COG6 COG8 COL13A1 COL18A1 COL1A2 COL2A1 COL3A1 COL4A1 COL9A3 COLEC10 COLEC11 COLQ COMT COPB1 COPB2 COQ2 COQ4 COQ8A COX15 COX7B CPA6 CPE CPLANE1 CPLX1 CPS1 CPSF3 CRADD CRB1 CRBN CREBBP CRH CRKL CRLF1 CRPPA CRX CSF1R CSGALNACT1 CSNK2A1 CSNK2B CSPP1 CSTB CTBP1 CTCF CTDP1 CTH CTNNA2 CTNNB1 CTNND2 CTSA CTSD CUL3 CUL4B CUX1 CUX2 CWC27 CWF19L1 CYB5A CYB5R3 CYFIP2 CYP24A1 CYP27A1 CYP2U1 D2HGDH DACT1 DAG1 DALRD3 DARS1 DARS2 DBT DCAF17 DCC DCDC2 DCHS1 DCX DDB1 DDB2 DDHD2 DDX11 DDX3X DDX59 DDX6 DEAF1 DEPDC5 DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DHDDS DHX16 DHX30 DHX38 DIAPH1 DIP2B DIS3L2 DISP1 DKC1 DLAT DLG3 DLG4 DLK1 DLL1 DLL3 DLL4 DLX5 DMD DMPK DMXL2 DNA2 DNAJC12 DNAJC19 DNAJC21 DNAJC3 DNAJC30 DNAJC6 DNAL4 DNM1 DNMT3A DNMT3B DOCK6 DOCK7 DOHH DOLK DONSON DPAGT1 DPF2 DPH1 DPH5 DPM3 DPP6 DPYD DPYS DPYSL5 DSG4 DSTYK DTYMK DUOX2 DUOXA2 DVL1 DVL3 DYM DYNC1H1 DYNC1I2 DYNC2LI1 DYRK1A EBF3 EBP ECE1 ECHS1 EDC3 EDEM3 EDN3 EDNRB EED EEF1A2 EFEMP2 EFL1 EFNB1 EFTUD2 EGF EHMT1 EIF2AK2 EIF2AK3 EIF2S3 EIF4H ELMO2 ELN ELOVL4 ELP2 EMC1 EMC10 EMILIN1 EML1 ENTPD1 EOGT EP300 EPB41L1 EPG5 ERBB2 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERLIN2 ERMARD ESCO2 ESPN ESS2 ETHE1 EVC EVC2 EXOC6B EXOSC2 EXOSC5 EXT1 EXT2 EXTL3 EYA1 EYS EZH2 FA2H FAM149B1 FAM161A FAM50A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FAT4 FBLN1 FBLN5 FBN1 FBP1 FBXL3 FBXO11 FBXO28 FBXO31 FBXW11 FBXW7 FCSK FGD1 FGF12 FGF13 FGF14 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIBP FIG4 FKBP6 FKRP FKTN FLCN FLI1 FLII FLNA FLNB FLVCR1 FMN2 FMR1 FOLR1 FOS FOXE1 FOXG1 FOXH1 FOXI1 FOXP1 FOXRED1 FRAS1 FREM1 FREM2 FRG1 FRMD4A FRMD5 FRMPD4 FRRS1L FSCN2 FTCD FTSJ1 FUCA1 FUT8 FZD2 FZD4 FZR1 GAA GABBR2 GABRA1 GABRA2 GABRA5 GABRB2 GABRB3 GABRD GABRG2 GAD1 GALE GALK1 GALNT2 GALT GAMT GAN GAS1 GATA1 GATA4 GATA6 GATAD2B GATM GBA1 GBA2 GBE1 GCH1 GCK GCLC GCSH GDF6 GDI1 GDNF GGT1 GHR GJA1 GJA5 GJA8 GJB3 GJB4 GK GLB1 GLDC GLI1 GLI2 GLI3 GLRA1 GLRA2 GLRB GLUD1 GLYCTK GMNN GMPPA GMPPB GNAI1 GNAO1 GNAQ GNAS GNB1 GNB2 GNB5 GNE GNPAT GNPTAB GNPTG GNS GORAB GOT2 GP1BB GPAA1 GPC3 GPC4 GPC6 GPHN GPI GPR161 GPR88 GPSM2 GPT2 GRIA1 GRIA2 GRIA3 GRIA4 GRID2 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GRIP1 GRM1 GRM7 GSS GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GTPBP3 GUCA1B GUCY2D GUF1 GUSB H1-4 H19 H4C11 H4C3 H4C5 H4C9 HAAO HACE1 HADH HADHA HAX1 HBA1 HBA2 HCCS HCFC1 HCN1 HCN4 HDAC4 HDAC6 HDAC8 HEATR3 HECW2 HELLS HEPACAM HERC1 HERC2 HES7 HESX1 HGSNAT HHAT HINT1 HIRA HIVEP2 HK1 HMGA2 HMGB3 HMGCL HNF1B HNF4A HNMT HNRNPA1 HNRNPA2B1 HNRNPH1 HNRNPH2 HNRNPK HNRNPU HPD HPDL HPRT1 HRAS HS2ST1 HSD17B10 HSD17B4 HSPD1 HSPG2 HTT HUWE1 HYCC1 HYLS1 IARS1 IDH3A IDH3B IDS IDUA IER3IP1 IFIH1 IFNG IFT140 IFT172 IFT27 IFT74 IFT88 IGBP1 IGF1 IGF1R IGF2 IKBKG IL1RAPL1 IMPA1 IMPDH1 IMPG1 IMPG2 INPP5E INPP5K INS INSR IPO8 IQCB1 IQSEC1 IQSEC2 IRF2BPL IRX5 ITGA7 ITGB6 ITPR1 IYD JAG1 JAG2 JMJD1C JRK KANK1 KANSL1 KAT5 KAT6A KAT6B KATNB1 KATNIP KCNA1 KCNA2 KCNAB2 KCNB1 KCNC2 KCNC3 KCNE5 KCNH1 KCNJ1 KCNJ10 KCNJ11 KCNJ13 KCNJ6 KCNJ8 KCNK4 KCNK9 KCNMA1 KCNN2 KCNN3 KCNQ1OT1 KCNQ2 KCNQ5 KCNT1 KCTD7 KDM3B KDM4B KDM5B KDM5C KDM6A KDSR KIAA0586 KIAA0753 KIAA1549 KIDINS220 KIF11 KIF14 KIF15 KIF1A KIF1C KIF4A KIF5A KIF5C KIF7 KIFBP KIT KIZ KLF13 KLHL15 KLHL7 KLLN KMT2A KMT2B KMT2C KMT2D KMT5B KNL1 KNSTRN KPTN KRAS KRT81 KRT83 KRT86 KY KYNU L1CAM L2HGDH LAGE3 LAMA1 LAMA2 LAMB1 LAMB2 LAMP2 LARGE1 LARP7 LAS1L LBR LCA5 LDHD LEMD3 LETM1 LFNG LGI3 LHX1 LHX3 LHX4 LIG3 LIG4 LIMK1 LINGO1 LINS1 LIPT1 LMAN2L LMBR1 LMBRD1 LMNA LMNB2 LMX1B LONP1 LRAT LRP2 LRP5 LRRK1 LSM11 LSS LTBP1 LTBP2 LUZP1 LYRM7 LYST LZTFL1 LZTR1 MAB21L2 MACF1 MAD2L2 MADD MAF MAG MAGEL2 MAGT1 MAK MAN1B1 MAN2B1 MAN2C1 MANBA MAOA MAP1B MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK10 MAPK8IP3 MAPRE2 MARCHF6 MARS1 MARS2 MASP1 MAT1A MBD5 MBOAT7 MBTPS2 MC2R MCCC1 MCCC2 MCM3AP MCM7 MCOLN1 MCPH1 MECOM MECP2 MED12 MED12L MED13L MED23 MED25 MED27 MEF2C MEG3 MEGF8 MEIS2 MERTK MESP2 METTL23 METTL27 METTL5 MFSD2A MGAT2 MGME1 MGP MIA3 MICOS13 MID1 MID2 MINPP1 MIR17HG MKKS MKS1 MLC1 MLXIPL MLYCD MMACHC MMADHC MMP14 MMP2 MMP23B MMUT MN1 MOCS1 MORC2 MPDU1 MPDZ MPLKIP MRAP MRPS2 MSL3 MSMO1 MSTO1 MSX2 MTFMT MTHFD1 MTHFR MTOR MTR MTRFR MTRR MTSS2 MVK MYCN MYH3 MYH7 MYMK MYMX MYO5A MYO7A MYO9A MYRF MYSM1 MYT1L NAA10 NAA15 NAA20 NACC1 NAGA NAGLU NALCN NANS NAPB NARS1 NARS2 NBN NCAPD2 NCAPD3 NCAPH NCDN NCF1 NDE1 NDN NDP NDST1 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF3 NDUFAF5 NDUFAF6 NDUFB11 NDUFB8 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECAP1 NECTIN1 NEDD4L NEK2 NELFA NEMF NEU1 NEUROD2 NEXMIF NF1 NFE2L2 NFIA NFIX NGF NGLY1 NHP2 NHS NIN NIPA1 NIPA2 NIPBL NKX2-1 NKX2-5 NKX6-2 NLGN3 NLGN4X NLRP3 NMNAT1 NNT NODAL NONO NOP10 NOTCH1 NOVA2 NPC1 NPC2 NPHP1 NPRL2 NPRL3 NR2E3 NR2F1 NR4A2 NRAS NRCAM NRL NRTN NRXN1 NSD1 NSD2 NSDHL NSF NSUN2 NT5C2 NTN1 NTNG1 NTNG2 NTRK1 NTRK2 NUDT2 NUP107 NUP62 NUP85 NUS1 NXN OCA2 OCLN OCRL OFD1 OGT OPA1 OPA3 OPHN1 ORC1 ORC4 ORC6 OSGEP OTC OTUD5 OTUD6B OTX2 P4HTM PACS1 PACS2 PAFAH1B1 PAH PAK1 PAK2 PAK3 PALB2 PARN PARS2 PAX1 PAX2 PAX3 PAX6 PAX8 PC PCARE PCCA PCCB PCDH12 PCDH15 PCDH19 PCDHGC4 PCGF2 PCNA PCNT PCYT1A PCYT2 PDCD6IP PDE10A PDE2A PDE4D PDE6A PDE6B PDE6D PDE6G PDHA1 PDHX PDP1 PDPN PDSS1 PDX1 PDZD8 PEPD PET100 PEX1 PEX10 PEX11B PEX12 PEX16 PEX2 PEX5 PEX6 PEX7 PGAP1 PGAP2 PGAP3 PGK1 PGM3 PHACTR1 PHC1 PHF21A PHF6 PHF8 PHGDH PHIP PHKA2 PHKG2 PHOX2B PHYH PI4KA PIBF1 PIDD1 PIEZO2 PIGC PIGF PIGG PIGL PIGN PIGO PIGP PIGQ PIGT PIGU PIGV PIGW PIGY PIK3CA PIK3CD PIK3R2 PISD PITRM1 PITX3 PLA2G6 PLAA PLCH1 PLEKHG2 PLK4 PLP1 PLPBP PMM2 PMPCA PMPCB PNKP PNP PNPLA2 PNPLA6 PODXL POGZ POLA1 POLG POLR1C POLR3A POLR3B POLRMT POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN POU1F1 POU3F3 POU3F4 POU4F1 PPARG PPFIBP1 PPIL1 PPM1B PPM1D PPP1CB PPP1R15B PPP2R1A PPP2R5D PPP3CA PPT1 PQBP1 PRCD PRDM12 PRDM13 PRDM16 PRDX1 PREPL PRICKLE1 PRKACA PRKACB PRKAR1A PRKCZ PRKRA PRMT7 PRODH PROKR2 PROM1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRR12 PRRT2 PRSS12 PRUNE1 PSEN1 PSEN2 PSMB1 PSMB8 PSMC1 PSMD12 PSPH PTCH1 PTCH2 PTCHD1 PTDSS1 PTEN PTPN11 PTRH2 PTS PUF60 PUM1 PURA PUS1 PUS3 PUS7 PYCR1 PYCR2 QDPR QRICH1 RAB18 RAB23 RAB39B RAB3GAP1 RAB3GAP2 RAB5IF RAC1 RAC3 RAD21 RAD50 RAD51 RAD51C RAF1 RAI1 RALA RANBP2 RARB RARS1 RB1 RBBP8 RBM10 RBM28 RBM8A RBMX RBP3 RBPJ RCBTB1 RD3 RDH11 RDH12 RECQL4 REEP6 RELN RERE RET RFC2 RFT1 RFWD3 RGR RHO RHOBTB2 RIC1 RIPK4 RIPPLY2 RIT1 RLBP1 RLIM RMRP RNASEH2A RNASEH2B RNASEH2C RNF113A RNF125 RNF13 RNF135 RNF2 RNF213 RNF220 RNU4ATAC RNU7-1 ROBO1 ROGDI ROM1 ROR2 RORA RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPL10 RPS19 RPS6KA3 RREB1 RRM2B RRP7A RSPRY1 RSRC1 RTEL1 RTL1 RTN4IP1 RTTN RUBCN RUSC2 RXYLT1 RYR1 SACS SAG SALL1 SAMD12 SAMHD1 SAR1B SARDH SARS1 SASS6 SATB1 SATB2 SBDS SC5D SCAPER SCARB2 SCN1A SCN1B SCN2A SCN3A SCN4A SCN8A SCO2 SCUBE3 SCYL1 SDCCAG8 SDHA SDHB SDHC SDHD SEC23B SEC24C SECISBP2 SELENOI SEMA3C SEMA3D SEMA3E SEMA4A SEMA5A SEMA6B SEPSECS SERAC1 SET SETBP1 SETD1A SETD1B SETD2 SETD5 SF3B2 SFXN4 SGSH SH2B1 SHANK3 SHH SHMT2 SHOC2 SHROOM4 SIK1 SIL1 SIM1 SIN3A SIN3B SIX3 SKI SKIC2 SKIC3 SLC12A1 SLC12A2 SLC12A5 SLC12A6 SLC13A5 SLC16A1 SLC16A2 SLC17A5 SLC18A2 SLC18A3 SLC19A3 SLC1A1 SLC1A2 SLC1A3 SLC1A4 SLC25A1 SLC25A15 SLC25A22 SLC25A24 SLC25A4 SLC26A4 SLC29A3 SLC2A1 SLC2A10 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SLC36A2 SLC38A3 SLC39A14 SLC39A8 SLC3A1 SLC45A1 SLC46A1 SLC4A4 SLC5A5 SLC5A7 SLC6A1 SLC6A17 SLC6A19 SLC6A20 SLC6A5 SLC6A8 SLC7A14 SLC7A7 SLC9A6 SLITRK6 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMCHD1 SMG9 SMO SMOC1 SMPD1 SMS SNAI2 SNAP25 SNAP29 SNRNP200 SNRPB SNRPN SNX14 SOBP SON SORL1 SOS1 SOST SOX10 SOX11 SOX2 SOX3 SOX4 SOX5 SOX6 SPART SPAST SPATA5 SPATA5L1 SPATA7 SPEG SPEN SPG11 SPINK5 SPOP SPR SPRED2 SPTAN1 SPTBN1 SPTBN2 SPTBN4 SRCAP SRD5A3 SREBF1 SRP54 SRPX2 SRY SSR4 ST3GAL3 STAC3 STAG1 STAG2 STAR STARD7 STAT3 STEEP1 STIL STRA6 STRADA STS STT3A STT3B STX1A STXBP1 SUCLA2 SUCLG1 SUFU SUMF1 SUOX SUPT16H SURF1 SUZ12 SVBP SYN1 SYNE1 SYNGAP1 SYNJ1 SYP SYT14 SYT2 SZT2 TAB2 TAC3 TACO1 TAF1 TAF13 TAF2 TAF6 TAF8 TANC2 TANGO2 TAOK1 TAT TBC1D20 TBC1D23 TBC1D24 TBC1D2B TBC1D7 TBCD TBCE TBL1XR1 TBL2 TBR1 TBX1 TCF12 TCF20 TCF4 TCIRG1 TCN2 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TDP2 TECPR2 TECR TELO2 TENM3 TERT TET3 TFAP2A TFAP2B TFE3 TG TGFBR1 TGFBR2 TGIF1 TGM6 TH THG1L THOC2 THOC6 THUMPD1 TIAM1 TIMM50 TIMM8A TINF2 TK2 TKT TLK2 TLR3 TMCO1 TMEM106B TMEM107 TMEM138 TMEM147 TMEM216 TMEM218 TMEM231 TMEM237 TMEM240 TMEM270 TMEM63C TMEM67 TMEM70 TMLHE TMPRSS6 TMTC3 TMX2 TNFRSF11A TNIK TNPO2 TNRC6B TOE1 TOGARAM1 TOMM40 TONSL TOPORS TOR1A TP63 TPO TPRKB TRAIP TRAK1 TRAPPC10 TRAPPC11 TRAPPC14 TRAPPC4 TRAPPC6B TRAPPC9 TREM2 TREX1 TRH TRIM32 TRIM37 TRIM8 TRIO TRIP12 TRIP13 TRIT1 TRMT10A TRNE TRNL1 TRNL2 TRNN TRNS1 TRPS1 TRRAP TSC1 TSC2 TSEN15 TSHB TSHR TSPAN12 TSPAN7 TSPOAP1 TTC5 TTC8 TTI2 TTN TUB TUBA1A TUBB TUBB2B TUBB3 TUBB4A TUBB4B TUBG1 TUBGCP4 TUBGCP6 TULP1 TUSC3 TWIST1 TWIST2 TWNK TXNRD2 TYMP UBA5 UBE2A UBE2T UBE3A UBE3B UBE4A UBE4B UBR1 UBR7 UBTF UFC1 UFD1 UFM1 UFSP2 UGP2 UGT1A1 UNC80 UPB1 UPF3B UQCRQ UROC1 USF3 USH1C USH1G USH2A USP27X USP45 USP7 USP8 USP9X VAMP1 VAMP2 VARS1 VCP VLDLR VPS11 VPS13B VPS13D VPS16 VPS35L VPS37D VPS41 VPS4A VPS53 VRK1 VWA3B WAC WARS2 WASF1 WASHC4 WASHC5 WDFY3 WDPCP WDR11 WDR26 WDR37 WDR4 WDR45 WDR45B WDR48 WDR62 WDR73 WDR81 WFS1 WIPI2 WLS WNT5A WT1 WWOX XPA XPC XPNPEP3 XRCC2 XRCC4 XYLT1 XYLT2 YAP1 YARS2 YEATS2 YME1L1 YWHAG YY1 YY1AP1 ZBTB11 ZBTB18 ZBTB20 ZBTB24 ZBTB7A ZC3H14 ZC4H2 ZDHHC9 ZEB2 ZFR ZFYVE26 ZIC1 ZIC2 ZMIZ1 ZMYM2 ZMYND11 ZNF148 ZNF292 ZNF407 ZNF408 ZNF423 ZNF462 ZNF513 ZNF592 ZNF699 ZNF711 ZNHIT3 ZSWIM6

Diseases (2230) :OMIM:231550 ORPHA:442835 ORPHA:2203 OMIM:238700 ORPHA:3124 OMIM:618808 ORPHA:791 ORPHA:1020 OMIM:256450 OMIM:240800 ORPHA:99885 OMIM:239850 ORPHA:1517 ORPHA:388 OMIM:619735 OMIM:275630 OMIM:203750 ORPHA:134 ORPHA:3322 OMIM:617762 OMIM:614559 ORPHA:2971 OMIM:264470 OMIM:617308 ORPHA:1855 OMIM:607944 ORPHA:86818 OMIM:300387 ORPHA:2573 ORPHA:2995 OMIM:243310 ORPHA:79107 OMIM:607371 OMIM:614583 OMIM:618468 OMIM:618470 ORPHA:337 OMIM:135100 OMIM:617933 ORPHA:3449 OMIM:277600 ORPHA:2136 ORPHA:51 ORPHA:225154 OMIM:618862 ORPHA:363528 OMIM:615286 OMIM:617885 OMIM:619651 ORPHA:101070 ORPHA:98889 OMIM:606854 OMIM:615752 OMIM:620065 OMIM:619151 OMIM:615873 ORPHA:86814 OMIM:103050 ORPHA:46 ORPHA:100973 OMIM:309548 OMIM:619297 OMIM:616368 ORPHA:444077 ORPHA:313772 OMIM:208400 ORPHA:93 ORPHA:90308 ORPHA:366 OMIM:619149 ORPHA:528 ORPHA:98914 OMIM:613752 ORPHA:412069 OMIM:615829 ORPHA:475 OMIM:608629 ORPHA:220493 ORPHA:2850 OMIM:203650 OMIM:310490 ORPHA:83629 OMIM:300232 ORPHA:101078 OMIM:618006 ORPHA:65 ORPHA:201 OMIM:615109 ORPHA:744 OMIM:176920 ORPHA:99802 OMIM:615937 ORPHA:100924 ORPHA:35664 OMIM:219150 OMIM:616586 ORPHA:816 OMIM:270200 ORPHA:79101 OMIM:239510 ORPHA:22 OMIM:271980 OMIM:266100 ORPHA:3006 ORPHA:57 OMIM:611881 OMIM:229600 ORPHA:79327 ORPHA:280071 ORPHA:79324 OMIM:300884 OMIM:619031 ORPHA:79326 OMIM:607906 ORPHA:79328 OMIM:608776 OMIM:618504 OMIM:242100 OMIM:613456 ORPHA:306542 OMIM:136760 ORPHA:60015 OMIM:613451 ORPHA:228390 ORPHA:52022 OMIM:300373 ORPHA:2780 OMIM:300990 OMIM:605899 ORPHA:221008 ORPHA:251066 ORPHA:356996 OMIM:615493 ORPHA:2512 ORPHA:261250 OMIM:148050 ORPHA:284289 OMIM:613728 OMIM:230740 OMIM:242150 ORPHA:171851 OMIM:619467 OMIM:619548 OMIM:609313 ORPHA:85335 OMIM:304340 ORPHA:85329 OMIM:618587 ORPHA:1942 OMIM:608233 ORPHA:280763 OMIM:614066 OMIM:613744 OMIM:612936 OMIM:614067 ORPHA:306511 OMIM:613647 ORPHA:261584 ORPHA:79665 OMIM:618677 ORPHA:821 OMIM:617169 ORPHA:324703 OMIM:125800 OMIM:617164 OMIM:608097 ORPHA:90 OMIM:207800 ORPHA:974 OMIM:100300 OMIM:615244 OMIM:617523 OMIM:300607 ORPHA:1465 OMIM:614607 ORPHA:251056 OMIM:135900 OMIM:617808 OMIM:612291 ORPHA:110 OMIM:209900 OMIM:600151 OMIM:617622 ORPHA:3157 OMIM:620141 OMIM:250100 ORPHA:401815 OMIM:617020 ORPHA:567 ORPHA:2508 OMIM:300004 OMIM:308350 ORPHA:1934 OMIM:300419 OMIM:309510 ORPHA:94083 ORPHA:452 ORPHA:3175 ORPHA:333 OMIM:228000 ORPHA:2590 ORPHA:99803 OMIM:617796 ORPHA:23 OMIM:207900 OMIM:608716 OMIM:215700 ORPHA:97297 OMIM:605039 OMIM:617190 ORPHA:352577 OMIM:615485 ORPHA:3197 OMIM:617183 ORPHA:496790 ORPHA:250977 OMIM:608688 OMIM:182600 OMIM:618494 OMIM:125370 OMIM:606693 ORPHA:2131 OMIM:104290 ORPHA:569 OMIM:614820 OMIM:619606 OMIM:124200 OMIM:619910 OMIM:614053 ORPHA:644 OMIM:300972 OMIM:300423 ORPHA:93952 OMIM:619970 OMIM:619971 ORPHA:357074 OMIM:219200 OMIM:278250 OMIM:618012 ORPHA:79499 ORPHA:3473 OMIM:616455 ORPHA:565 OMIM:309400 ORPHA:198 ORPHA:905 OMIM:615268 ORPHA:1766 ORPHA:808 OMIM:210600 ORPHA:847 OMIM:301040 OMIM:309580 ORPHA:352490 OMIM:615834 OMIM:304800 OMIM:615181 ORPHA:899 ORPHA:93359 ORPHA:709 OMIM:261540 ORPHA:101006 OMIM:609195 OMIM:617120 OMIM:619762 ORPHA:904 OMIM:615995 OMIM:615981 OMIM:615982 OMIM:615984 OMIM:615986 OMIM:300475 OMIM:619641 OMIM:248600 OMIM:614923 OMIM:617101 OMIM:617237 OMIM:618092 ORPHA:568 OMIM:309800 OMIM:300166 ORPHA:2712 OMIM:301029 ORPHA:261330 ORPHA:123 OMIM:262000 OMIM:124000 ORPHA:893 OMIM:615290 OMIM:619325 ORPHA:169186 OMIM:255200 OMIM:210900 OMIM:617822 ORPHA:79076 ORPHA:529962 OMIM:617755 ORPHA:1340 OMIM:115150 ORPHA:54595 OMIM:613707 OMIM:163950 OMIM:613706 ORPHA:500 OMIM:618056 ORPHA:84 OMIM:617883 ORPHA:199 ORPHA:444072 OMIM:616202 OMIM:617333 OMIM:300659 OMIM:269700 OMIM:602522 ORPHA:79241 ORPHA:1052 OMIM:257300 OMIM:618221 OMIM:218340 ORPHA:1777 ORPHA:434179 OMIM:615948 ORPHA:2785 OMIM:259730 OMIM:613227 ORPHA:98784 OMIM:617106 ORPHA:97 ORPHA:2382 OMIM:620029 OMIM:601005 OMIM:615474 ORPHA:369929 OMIM:618087 ORPHA:64280 OMIM:614256 OMIM:617798 OMIM:618095 OMIM:617799 OMIM:618522 ORPHA:163693 OMIM:614756 ORPHA:314647 OMIM:251450 ORPHA:1425 OMIM:618891 ORPHA:477774 OMIM:300422 OMIM:300749 ORPHA:163937 ORPHA:1606 ORPHA:394 OMIM:236200 OMIM:608443 OMIM:619111 OMIM:612285 ORPHA:1454 ORPHA:2318 OMIM:235510 ORPHA:7 OMIM:614807 OMIM:617507 OMIM:236600 ORPHA:1308 OMIM:619302 ORPHA:487796 OMIM:616737 OMIM:619841 ORPHA:2554 ORPHA:2268 OMIM:616910 ORPHA:1299 OMIM:211380 OMIM:619736 OMIM:612580 OMIM:618929 ORPHA:231169 OMIM:617694 OMIM:617360 OMIM:618916 OMIM:604804 OMIM:616080 OMIM:618748 ORPHA:3095 OMIM:300672 ORPHA:93925 ORPHA:93924 ORPHA:280200 ORPHA:93926 ORPHA:95496 ORPHA:220386 ORPHA:280195 OMIM:619561 OMIM:608393 OMIM:619988 OMIM:614673 OMIM:613823 OMIM:615703 OMIM:615991 OMIM:610188 OMIM:614464 OMIM:614114 OMIM:614728 OMIM:615862 OMIM:618873 ORPHA:572013 OMIM:616230 OMIM:616351 OMIM:616579 ORPHA:529965 OMIM:617682 OMIM:615369 OMIM:617159 OMIM:619873 ORPHA:138 OMIM:214800 OMIM:615032 OMIM:602541 OMIM:614961 OMIM:618438 OMIM:600513 ORPHA:199318 OMIM:612001 OMIM:601776 ORPHA:363417 OMIM:617600 ORPHA:3463 OMIM:617090 OMIM:272440 ORPHA:3255 OMIM:619512 ORPHA:485350 OMIM:300114 OMIM:613090 OMIM:619328 OMIM:300886 ORPHA:324410 OMIM:204200 OMIM:256731 OMIM:610003 ORPHA:1947 ORPHA:411493 ORPHA:445038 OMIM:616271 OMIM:617854 ORPHA:2116 OMIM:616418 OMIM:619033 OMIM:618672 OMIM:617929 ORPHA:163681 OMIM:610042 OMIM:619061 ORPHA:436271 ORPHA:263508 ORPHA:435934 ORPHA:263487 OMIM:613612 OMIM:614576 ORPHA:363523 OMIM:615328 ORPHA:95428 OMIM:611182 OMIM:267750 ORPHA:230851 ORPHA:85198 ORPHA:90653 ORPHA:2500 OMIM:175780 OMIM:620022 ORPHA:293843 OMIM:248340 OMIM:265050 ORPHA:98915 OMIM:619255 OMIM:619884 OMIM:607426 OMIM:616276 ORPHA:139485 OMIM:612016 ORPHA:255241 ORPHA:2556 OMIM:309801 OMIM:614417 OMIM:619326 ORPHA:2754 OMIM:277170 OMIM:617976 ORPHA:352582 OMIM:194190 ORPHA:280 OMIM:237300 OMIM:619876 OMIM:614499 OMIM:607417 OMIM:618332 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:272430 OMIM:614643 OMIM:618476 OMIM:617062 OMIM:618732 OMIM:615636 OMIM:254800 ORPHA:308 OMIM:617915 ORPHA:363611 OMIM:615502 OMIM:604168 ORPHA:48431 ORPHA:212 OMIM:618174 ORPHA:891 OMIM:615075 ORPHA:404473 ORPHA:281 ORPHA:351 OMIM:256540 OMIM:610127 OMIM:619239 OMIM:300354 ORPHA:85293 OMIM:618330 ORPHA:166035 OMIM:250410 ORPHA:453521 OMIM:616127 ORPHA:621 OMIM:250800 OMIM:143880 ORPHA:909 OMIM:213700 ORPHA:320411 OMIM:615030 OMIM:600721 ORPHA:857 ORPHA:280333 ORPHA:370997 OMIM:613818 OMIM:615281 ORPHA:137898 OMIM:241080 ORPHA:3464 ORPHA:238722 OMIM:617542 OMIM:157600 OMIM:617394 ORPHA:314679 OMIM:601390 OMIM:300067 OMIM:619426 ORPHA:910 ORPHA:320380 OMIM:615033 OMIM:613398 OMIM:300958 ORPHA:457260 ORPHA:2919 OMIM:174300 OMIM:618653 OMIM:617171 ORPHA:468620 OMIM:615828 ORPHA:819 OMIM:604364 ORPHA:98820 OMIM:192430 ORPHA:35107 ORPHA:818 OMIM:270400 OMIM:617836 OMIM:618733 OMIM:617804 OMIM:136630 ORPHA:2849 OMIM:305000 OMIM:245348 ORPHA:79244 OMIM:300850 OMIM:618793 ORPHA:254534 ORPHA:96184 ORPHA:254531 ORPHA:254525 OMIM:618709 ORPHA:2311 OMIM:183600 OMIM:310200 OMIM:160900 OMIM:618663 ORPHA:453533 OMIM:616113 OMIM:615807 OMIM:617384 OMIM:610198 ORPHA:811 OMIM:260400 ORPHA:445062 ORPHA:391411 OMIM:615528 OMIM:616346 OMIM:615879 ORPHA:404443 OMIM:242860 ORPHA:411986 OMIM:620066 ORPHA:91131 OMIM:617604 OMIM:608093 ORPHA:86309 OMIM:618027 OMIM:616901 OMIM:620070 ORPHA:263494 OMIM:616311 ORPHA:293948 OMIM:274270 ORPHA:1675 OMIM:222748 OMIM:619435 ORPHA:573 OMIM:270750 OMIM:619847 ORPHA:95716 OMIM:274900 ORPHA:3107 OMIM:180700 ORPHA:239 OMIM:614563 OMIM:618492 ORPHA:289 ORPHA:268261 ORPHA:464311 OMIM:614104 OMIM:617330 OMIM:302960 ORPHA:401973 OMIM:300960 OMIM:616460 OMIM:619493 OMIM:617561 ORPHA:3447 OMIM:616393 ORPHA:90349 ORPHA:1520 ORPHA:79113 OMIM:611718 OMIM:610253 ORPHA:96147 ORPHA:261652 OMIM:619687 ORPHA:1667 ORPHA:85282 OMIM:300148 ORPHA:3019 OMIM:194050 OMIM:614457 OMIM:617270 OMIM:616875 ORPHA:480898 OMIM:619264 OMIM:620080 OMIM:600348 ORPHA:401810 OMIM:615683 OMIM:618333 OMIM:613684 ORPHA:353284 OMIM:614257 ORPHA:1493 ORPHA:90322 OMIM:601675 OMIM:278730 ORPHA:220295 OMIM:610651 ORPHA:90321 OMIM:278760 OMIM:610965 OMIM:214150 ORPHA:90324 OMIM:133540 OMIM:278800 OMIM:216400 ORPHA:209951 ORPHA:280384 OMIM:611225 ORPHA:75857 OMIM:216100 ORPHA:2319 OMIM:268300 ORPHA:3103 OMIM:602473 ORPHA:51188 OMIM:225500 OMIM:617763 OMIM:619576 ORPHA:502 ORPHA:466926 OMIM:617425 ORPHA:508533 ORPHA:2792 OMIM:277590 ORPHA:171629 OMIM:612319 OMIM:618763 OMIM:300261 OMIM:227650 OMIM:300514 ORPHA:3412 OMIM:227645 OMIM:227646 OMIM:600901 ORPHA:438178 OMIM:616154 OMIM:616006 OMIM:615546 ORPHA:404451 ORPHA:2462 OMIM:608328 ORPHA:348 OMIM:606220 OMIM:618089 OMIM:619777 OMIM:615979 OMIM:618914 OMIM:620012 OMIM:618324 OMIM:305400 ORPHA:98764 ORPHA:2396 OMIM:147950 ORPHA:2645 OMIM:101600 OMIM:207410 OMIM:101200 ORPHA:87 OMIM:123500 ORPHA:168624 OMIM:609579 ORPHA:93259 ORPHA:93260 ORPHA:794 OMIM:101400 OMIM:616482 OMIM:610474 OMIM:146000 ORPHA:429 ORPHA:35099 OMIM:602849 ORPHA:85165 ORPHA:1860 OMIM:187600 OMIM:606812 ORPHA:500095 OMIM:617107 ORPHA:208441 ORPHA:370959 ORPHA:370968 OMIM:236670 OMIM:613153 OMIM:606612 ORPHA:272 OMIM:253800 OMIM:610883 ORPHA:2308 ORPHA:851 OMIM:305620 ORPHA:1826 OMIM:300049 ORPHA:90650 ORPHA:90652 OMIM:311300 OMIM:304120 OMIM:150250 ORPHA:503 OMIM:609033 ORPHA:88628 OMIM:616193 OMIM:300624 ORPHA:908 ORPHA:449291 ORPHA:261483 OMIM:613068 ORPHA:95713 ORPHA:1226 ORPHA:261144 OMIM:613454 OMIM:274600 ORPHA:705 ORPHA:391372 OMIM:613670 OMIM:219000 ORPHA:2052 OMIM:608980 OMIM:158900 OMIM:616819 ORPHA:466688 OMIM:620094 OMIM:300983 ORPHA:725 OMIM:616981 ORPHA:51208 OMIM:229100 OMIM:309549 ORPHA:349 OMIM:230000 OMIM:618005 ORPHA:308552 OMIM:617904 OMIM:617903 OMIM:615744 OMIM:618559 OMIM:617829 OMIM:617113 ORPHA:1945 OMIM:619124 OMIM:230350 ORPHA:79237 OMIM:618885 ORPHA:79239 OMIM:230400 OMIM:612736 ORPHA:382 ORPHA:643 OMIM:256850 OMIM:190685 ORPHA:251071 ORPHA:2255 OMIM:615074 ORPHA:363686 OMIM:612718 ORPHA:2072 ORPHA:352641 OMIM:614409 ORPHA:206583 OMIM:233910 OMIM:602485 ORPHA:33574 OMIM:300849 OMIM:231950 ORPHA:633 ORPHA:317 ORPHA:2710 OMIM:164200 OMIM:612474 OMIM:307030 ORPHA:79255 OMIM:230500 OMIM:230650 ORPHA:36 ORPHA:380 OMIM:175700 ORPHA:672 OMIM:301076 OMIM:614619 OMIM:606762 ORPHA:35878 OMIM:220120 ORPHA:941 OMIM:616835 OMIM:615510 ORPHA:363623 OMIM:615350 OMIM:615351 OMIM:615352 OMIM:619854 OMIM:617493 ORPHA:624 OMIM:185300 ORPHA:3205 ORPHA:79443 ORPHA:79444 OMIM:103580 OMIM:612462 ORPHA:79445 OMIM:612463 ORPHA:488613 OMIM:616973 OMIM:619503 ORPHA:542306 OMIM:617173 OMIM:617182 OMIM:269921 ORPHA:3166 OMIM:222765 OMIM:252600 OMIM:252605 OMIM:252940 ORPHA:2078 OMIM:231070 OMIM:618721 OMIM:617810 ORPHA:529665 ORPHA:373 OMIM:301026 ORPHA:93329 OMIM:613470 OMIM:616939 OMIM:604213 OMIM:616281 ORPHA:477673 OMIM:619927 OMIM:619931 OMIM:618917 OMIM:300699 ORPHA:364028 OMIM:617864 OMIM:616204 OMIM:611092 OMIM:619580 ORPHA:208447 OMIM:614254 OMIM:617820 ORPHA:289266 OMIM:245570 ORPHA:163721 OMIM:616139 OMIM:613970 ORPHA:324262 OMIM:614831 OMIM:618922 OMIM:266130 OMIM:616943 OMIM:616395 OMIM:617988 ORPHA:444013 OMIM:204000 OMIM:617065 ORPHA:584 OMIM:253220 OMIM:617537 ORPHA:2128 ORPHA:231140 OMIM:619759 OMIM:619758 OMIM:619950 OMIM:619951 OMIM:617660 OMIM:616756 ORPHA:464282 OMIM:609975 ORPHA:5 OMIM:610738 ORPHA:98791 OMIM:309541 OMIM:615871 OMIM:618482 OMIM:619521 ORPHA:1001 OMIM:600430 OMIM:300863 ORPHA:163966 OMIM:300882 ORPHA:3459 OMIM:620072 OMIM:617268 OMIM:616911 OMIM:604004 OMIM:613925 OMIM:613926 OMIM:617011 ORPHA:457359 OMIM:615516 OMIM:252930 ORPHA:1422 ORPHA:324442 OMIM:616977 OMIM:618547 ORPHA:94063 OMIM:300915 ORPHA:20 ORPHA:261265 ORPHA:93111 ORPHA:263455 OMIM:616739 ORPHA:52430 OMIM:620083 OMIM:300986 OMIM:616580 ORPHA:352665 ORPHA:453504 ORPHA:238769 OMIM:617391 OMIM:276710 OMIM:619026 ORPHA:79233 OMIM:300322 ORPHA:510 OMIM:218040 ORPHA:3071 ORPHA:2612 OMIM:163200 OMIM:619194 ORPHA:85295 ORPHA:391428 OMIM:300438 OMIM:233400 OMIM:612233 ORPHA:800 OMIM:255800 OMIM:617435 OMIM:309590 ORPHA:85163 OMIM:610532 ORPHA:541423 OMIM:617093 OMIM:309900 ORPHA:93473 OMIM:607014 OMIM:614231 OMIM:615846 ORPHA:805 OMIM:613254 OMIM:266920 OMIM:619471 OMIM:615630 OMIM:615996 OMIM:617119 OMIM:619582 ORPHA:52055 OMIM:300472 ORPHA:73272 OMIM:608747 ORPHA:73273 OMIM:270450 OMIM:308300 ORPHA:464 OMIM:300143 OMIM:617323 OMIM:213300 OMIM:610156 ORPHA:75858 ORPHA:559 OMIM:617404 ORPHA:508 ORPHA:769 OMIM:619472 OMIM:618687 OMIM:309530 ORPHA:217377 ORPHA:397933 OMIM:618088 OMIM:611174 OMIM:613204 ORPHA:1065 OMIM:206700 OMIM:117360 OMIM:274800 OMIM:118450 OMIM:619566 OMIM:612900 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:619103 OMIM:616268 ORPHA:457193 ORPHA:3047 ORPHA:85201 OMIM:606170 OMIM:603736 ORPHA:89844 OMIM:616366 OMIM:619913 OMIM:605259 ORPHA:98768 ORPHA:420561 OMIM:611816 OMIM:135500 OMIM:241200 ORPHA:199343 OMIM:612780 ORPHA:79644 OMIM:614098 ORPHA:435628 OMIM:618381 OMIM:612292 ORPHA:79137 OMIM:619725 OMIM:618658 OMIM:613720 ORPHA:439218 OMIM:617601 OMIM:615005 OMIM:611726 ORPHA:263516 OMIM:618846 OMIM:619320 OMIM:618109 OMIM:300534 ORPHA:85279 OMIM:147920 OMIM:300867 OMIM:617296 ORPHA:521390 OMIM:152950 ORPHA:2526 OMIM:617914 ORPHA:261323 OMIM:614255 OMIM:614213 ORPHA:2836 ORPHA:397946 OMIM:300923 ORPHA:100991 OMIM:615282 OMIM:200990 ORPHA:166024 ORPHA:66629 OMIM:609460 ORPHA:2884 OMIM:300982 OMIM:605130 ORPHA:319182 OMIM:619934 ORPHA:589618 OMIM:617284 OMIM:617768 OMIM:617788 OMIM:604321 ORPHA:221139 ORPHA:397612 OMIM:615637 ORPHA:496689 ORPHA:79155 OMIM:304100 OMIM:307000 ORPHA:2182 ORPHA:2466 OMIM:303350 ORPHA:1497 ORPHA:306617 OMIM:236792 ORPHA:79314 OMIM:301006 ORPHA:370022 ORPHA:258 OMIM:607855 OMIM:615191 OMIM:300257 ORPHA:34587 OMIM:613154 OMIM:608840 ORPHA:319671 OMIM:615071 OMIM:309585 OMIM:169400 OMIM:245450 OMIM:620089 OMIM:620007 OMIM:221750 ORPHA:298 ORPHA:235 ORPHA:99812 OMIM:618103 OMIM:614340 OMIM:617863 OMIM:616887 ORPHA:2378 ORPHA:79284 OMIM:212112 ORPHA:79087 ORPHA:495818 OMIM:600373 ORPHA:79243 ORPHA:2143 OMIM:259770 OMIM:615198 OMIM:618840 OMIM:615838 ORPHA:352723 ORPHA:167 OMIM:214500 OMIM:615994 OMIM:605275 OMIM:615877 OMIM:618325 OMIM:619005 ORPHA:1272 OMIM:601088 ORPHA:459056 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615547 OMIM:301031 ORPHA:397941 OMIM:614202 OMIM:248500 ORPHA:309288 ORPHA:309282 OMIM:619775 ORPHA:118 OMIM:248510 OMIM:300615 OMIM:618918 OMIM:615279 OMIM:617137 OMIM:619087 OMIM:618443 ORPHA:2505 OMIM:616734 ORPHA:401835 OMIM:619692 ORPHA:314603 OMIM:257920 OMIM:250850 ORPHA:228402 OMIM:156200 OMIM:617188 ORPHA:85284 ORPHA:2273 OMIM:308205 ORPHA:361 OMIM:210200 OMIM:210210 OMIM:618124 OMIM:252650 ORPHA:578 OMIM:251200 OMIM:616738 OMIM:300496 OMIM:300673 OMIM:300260 OMIM:300055 ORPHA:1762 OMIM:312750 ORPHA:3077 ORPHA:293707 ORPHA:93932 OMIM:309520 ORPHA:776 OMIM:300895 OMIM:305450 OMIM:618872 ORPHA:369891 OMIM:616789 OMIM:614249 ORPHA:464738 OMIM:619286 ORPHA:228384 OMIM:613443 ORPHA:65759 ORPHA:261190 OMIM:600987 OMIM:615942 OMIM:618665 OMIM:616486 OMIM:212066 OMIM:615084 ORPHA:352447 OMIM:245150 ORPHA:85202 OMIM:619269 ORPHA:67047 ORPHA:2745 OMIM:300000 OMIM:300928 ORPHA:284339 ORPHA:391646 OMIM:605231 ORPHA:2473 OMIM:615990 OMIM:617121 OMIM:248360 ORPHA:79282 OMIM:277400 ORPHA:79283 OMIM:277410 ORPHA:371428 ORPHA:79312 ORPHA:289916 OMIM:618774 OMIM:252150 ORPHA:466768 OMIM:619090 ORPHA:79323 OMIM:615219 OMIM:234050 OMIM:617950 OMIM:301032 OMIM:616834 ORPHA:502423 OMIM:617675 OMIM:618248 OMIM:617780 ORPHA:395 OMIM:607341 ORPHA:457485 OMIM:616638 OMIM:250940 ORPHA:320375 OMIM:615035 OMIM:236270 ORPHA:2169 OMIM:620086 ORPHA:29 OMIM:164280 ORPHA:391641 OMIM:193700 ORPHA:437572 ORPHA:1358 ORPHA:79476 OMIM:214450 ORPHA:33445 OMIM:618280 ORPHA:508542 OMIM:616521 OMIM:617787 OMIM:619717 OMIM:617393 ORPHA:500545 ORPHA:79279 ORPHA:79280 ORPHA:79281 OMIM:609242 OMIM:609241 OMIM:252920 ORPHA:371364 OMIM:610442 OMIM:620033 OMIM:619091 OMIM:619092 OMIM:616239 OMIM:251260 OMIM:617983 OMIM:617985 OMIM:619373 OMIM:614019 OMIM:605013 ORPHA:649 OMIM:310600 OMIM:616116 ORPHA:70474 OMIM:618238 ORPHA:3253 OMIM:617201 OMIM:619099 ORPHA:93399 OMIM:256550 ORPHA:812 OMIM:300912 ORPHA:85277 ORPHA:97685 ORPHA:139474 ORPHA:363700 OMIM:162200 OMIM:601321 OMIM:617744 ORPHA:401986 OMIM:613735 ORPHA:447980 ORPHA:420179 ORPHA:561 OMIM:602535 OMIM:614753 ORPHA:64752 OMIM:608654 ORPHA:404454 OMIM:615273 OMIM:224230 OMIM:613987 OMIM:302350 ORPHA:627 ORPHA:319675 OMIM:614851 ORPHA:261183 OMIM:122470 ORPHA:209905 OMIM:225250 ORPHA:95712 ORPHA:527497 OMIM:300425 OMIM:300495 ORPHA:1451 ORPHA:466791 OMIM:300967 OMIM:618859 OMIM:257220 OMIM:607625 ORPHA:220497 OMIM:266900 OMIM:615722 ORPHA:401777 OMIM:619911 OMIM:613224 OMIM:619833 OMIM:614325 ORPHA:228415 OMIM:117550 OMIM:619695 ORPHA:251383 OMIM:300831 OMIM:308050 OMIM:619340 OMIM:611091 ORPHA:320396 OMIM:613162 OMIM:618718 ORPHA:642 OMIM:256800 OMIM:617830 OMIM:613886 OMIM:619844 OMIM:618348 OMIM:271930 OMIM:617831 ORPHA:1507 ORPHA:98794 OMIM:251290 OMIM:309000 ORPHA:534 OMIM:300804 OMIM:311200 ORPHA:2750 OMIM:300209 OMIM:300997 OMIM:210000 OMIM:300486 ORPHA:137831 OMIM:224690 OMIM:617729 OMIM:311250 OMIM:301056 ORPHA:505237 OMIM:617452 OMIM:618493 ORPHA:329224 OMIM:615009 OMIM:618067 OMIM:607432 ORPHA:95232 ORPHA:79254 ORPHA:2209 OMIM:618158 OMIM:618458 OMIM:300558 OMIM:615560 OMIM:120330 ORPHA:896 OMIM:148820 OMIM:194072 ORPHA:95720 OMIM:266150 ORPHA:35 OMIM:251280 OMIM:300088 ORPHA:101039 OMIM:619880 OMIM:618371 ORPHA:438134 ORPHA:2637 OMIM:210720 OMIM:618770 OMIM:620047 OMIM:616922 OMIM:619150 ORPHA:950 OMIM:614613 ORPHA:280651 ORPHA:439822 OMIM:312170 OMIM:245349 ORPHA:255182 OMIM:608782 OMIM:614651 OMIM:620021 ORPHA:742 ORPHA:3220 OMIM:214100 ORPHA:247815 OMIM:614920 OMIM:266510 OMIM:614877 OMIM:614866 OMIM:214110 OMIM:202370 OMIM:616716 OMIM:614863 OMIM:614879 ORPHA:773 OMIM:215100 ORPHA:401820 OMIM:615802 OMIM:614207 ORPHA:247262 OMIM:615716 ORPHA:713 OMIM:300653 OMIM:615816 ORPHA:443811 OMIM:618298 OMIM:618725 ORPHA:127 OMIM:301900 OMIM:300263 ORPHA:85287 OMIM:601815 OMIM:617991 ORPHA:589905 ORPHA:264580 OMIM:619708 OMIM:619827 OMIM:114300 OMIM:248700 ORPHA:2461 OMIM:617816 OMIM:619356 OMIM:616917 ORPHA:3474 OMIM:280000 ORPHA:2059 OMIM:614080 OMIM:614749 OMIM:617599 ORPHA:369837 OMIM:615398 OMIM:618590 OMIM:239300 OMIM:616025 OMIM:615108 OMIM:602501 ORPHA:60040 OMIM:603387 OMIM:618889 OMIM:619405 OMIM:610623 OMIM:256600 OMIM:617527 ORPHA:521426 OMIM:616763 ORPHA:2518 OMIM:616171 ORPHA:280234 OMIM:312080 ORPHA:280219 ORPHA:280210 ORPHA:280224 OMIM:312920 ORPHA:99015 OMIM:617290 ORPHA:79318 ORPHA:1170 OMIM:213200 OMIM:617954 OMIM:613402 OMIM:613179 ORPHA:760 ORPHA:98908 ORPHA:565612 OMIM:215470 ORPHA:2377 OMIM:245800 OMIM:275400 ORPHA:468678 OMIM:616364 OMIM:301220 OMIM:301030 ORPHA:163976 OMIM:603041 OMIM:616494 ORPHA:447896 OMIM:264090 ORPHA:3455 OMIM:619742 OMIM:614381 OMIM:619743 OMIM:253280 OMIM:613151 OMIM:616094 OMIM:613155 OMIM:609308 ORPHA:86812 OMIM:613150 OMIM:613156 OMIM:305600 OMIM:613038 OMIM:618604 ORPHA:1435 OMIM:620024 OMIM:619301 OMIM:617450 ORPHA:2701 OMIM:616817 ORPHA:391408 OMIM:616362 ORPHA:457284 ORPHA:457279 OMIM:616355 OMIM:618265 OMIM:617711 OMIM:256730 ORPHA:93946 OMIM:309500 ORPHA:93947 ORPHA:93945 ORPHA:93950 OMIM:616488 OMIM:619761 OMIM:101800 ORPHA:210571 OMIM:617157 ORPHA:464288 OMIM:239500 OMIM:619737 OMIM:301835 ORPHA:1187 OMIM:300661 ORPHA:411543 ORPHA:423479 OMIM:619539 ORPHA:98811 OMIM:249500 OMIM:617481 ORPHA:544469 OMIM:620038 OMIM:256040 OMIM:620071 OMIM:617516 ORPHA:79350 OMIM:614023 OMIM:109400 ORPHA:377 ORPHA:77301 OMIM:300830 ORPHA:2658 OMIM:151050 ORPHA:109 OMIM:158350 OMIM:605309 ORPHA:2969 OMIM:151100 ORPHA:456312 OMIM:616263 ORPHA:13 OMIM:261640 ORPHA:508488 ORPHA:508498 OMIM:617931 OMIM:616158 ORPHA:314655 ORPHA:2598 OMIM:600462 OMIM:617051 ORPHA:488627 OMIM:618342 OMIM:614438 ORPHA:481152 ORPHA:226 OMIM:261630 OMIM:617982 ORPHA:2510 OMIM:614222 OMIM:201000 ORPHA:2379 OMIM:300271 OMIM:311510 ORPHA:1387 OMIM:619420 OMIM:600118 ORPHA:401830 OMIM:212720 OMIM:614225 OMIM:616994 OMIM:617751 ORPHA:500159 OMIM:618577 OMIM:613078 OMIM:617244 OMIM:611553 ORPHA:1713 OMIM:182290 OMIM:619311 ORPHA:88619 ORPHA:2470 OMIM:615524 OMIM:616140 ORPHA:438114 ORPHA:1587 OMIM:251255 ORPHA:2886 OMIM:612079 ORPHA:157954 OMIM:274000 OMIM:300238 OMIM:614814 OMIM:617175 ORPHA:436245 OMIM:218600 OMIM:268400 ORPHA:494344 OMIM:612015 OMIM:618004 OMIM:618761 ORPHA:1234 OMIM:615355 OMIM:300978 OMIM:607095 OMIM:300953 OMIM:616260 OMIM:618379 ORPHA:544503 ORPHA:137634 OMIM:619460 OMIM:619688 OMIM:226960 ORPHA:1824 ORPHA:2636 OMIM:210710 OMIM:616651 ORPHA:353298 ORPHA:1946 OMIM:226750 OMIM:268310 OMIM:618060 OMIM:204100 OMIM:611560 OMIM:300998 ORPHA:459070 OMIM:105650 OMIM:303600 ORPHA:192 OMIM:300844 OMIM:612075 OMIM:619453 ORPHA:457395 OMIM:616723 OMIM:618402 OMIM:616732 ORPHA:468631 OMIM:614833 ORPHA:404499 OMIM:615705 OMIM:617773 OMIM:270550 OMIM:107480 OMIM:601068 OMIM:246700 ORPHA:3129 OMIM:617709 OMIM:616402 OMIM:619228 OMIM:619229 ORPHA:251019 OMIM:612313 ORPHA:251028 ORPHA:576283 OMIM:607330 OMIM:618195 OMIM:619317 OMIM:607208 OMIM:617935 ORPHA:99735 OMIM:614306 OMIM:614558 OMIM:619184 ORPHA:466794 OMIM:616719 OMIM:615993 OMIM:613615 ORPHA:171706 ORPHA:506353 OMIM:618768 OMIM:618876 OMIM:613811 OMIM:614739 OMIM:618106 ORPHA:436151 OMIM:616078 OMIM:269150 OMIM:619056 OMIM:619000 OMIM:616831 ORPHA:404440 OMIM:615761 OMIM:164210 OMIM:615578 OMIM:252900 ORPHA:261222 ORPHA:261197 ORPHA:48652 OMIM:606232 OMIM:613950 OMIM:142945 OMIM:147250 OMIM:619121 OMIM:607721 ORPHA:85288 OMIM:248800 ORPHA:398079 ORPHA:94065 ORPHA:500166 OMIM:613406 OMIM:157170 OMIM:182212 ORPHA:84064 OMIM:601678 OMIM:619080 OMIM:616645 OMIM:218000 ORPHA:1496 OMIM:616095 ORPHA:59 OMIM:300523 OMIM:604369 OMIM:618049 OMIM:222730 OMIM:617105 OMIM:616657 ORPHA:447997 OMIM:238970 ORPHA:415 ORPHA:2095 OMIM:615418 ORPHA:1782 ORPHA:168569 ORPHA:71277 OMIM:614847 OMIM:606777 ORPHA:168577 ORPHA:53583 OMIM:608885 ORPHA:3342 OMIM:208050 OMIM:603585 OMIM:300896 ORPHA:356961 OMIM:615553 ORPHA:370943 OMIM:266265 ORPHA:99843 OMIM:242600 OMIM:619881 ORPHA:521406 OMIM:617013 OMIM:616721 ORPHA:468699 OMIM:617532 OMIM:229050 OMIM:604278 OMIM:274400 OMIM:617143 OMIM:616421 OMIM:616269 ORPHA:457212 OMIM:300352 ORPHA:52503 ORPHA:470 ORPHA:85278 OMIM:300243 OMIM:221200 OMIM:139210 ORPHA:2588 OMIM:619293 ORPHA:2728 ORPHA:3051 OMIM:601358 OMIM:614609 OMIM:614608 OMIM:618779 OMIM:616938 OMIM:300590 OMIM:610759 OMIM:603457 OMIM:619995 ORPHA:1553 ORPHA:1106 OMIM:206920 ORPHA:77293 OMIM:257200 OMIM:309583 ORPHA:3063 ORPHA:66631 OMIM:609528 ORPHA:1393 OMIM:117650 OMIM:105830 OMIM:209850 ORPHA:177907 ORPHA:397709 OMIM:616354 OMIM:613671 ORPHA:500150 OMIM:617140 OMIM:610733 ORPHA:1513 OMIM:609136 ORPHA:163746 OMIM:611584 OMIM:615866 ORPHA:77298 OMIM:300123 ORPHA:67045 OMIM:618506 ORPHA:313892 OMIM:616803 OMIM:618971 OMIM:275900 ORPHA:100985 OMIM:182601 OMIM:616577 ORPHA:457351 OMIM:619616 OMIM:619312 ORPHA:2822 OMIM:604360 ORPHA:634 OMIM:618828 OMIM:618829 ORPHA:70594 OMIM:612716 OMIM:619745 OMIM:613477 OMIM:619475 ORPHA:352403 OMIM:617519 OMIM:619595 ORPHA:2044 OMIM:136140 OMIM:612379 OMIM:612713 ORPHA:324737 OMIM:300643 ORPHA:1772 OMIM:300934 ORPHA:370927 OMIM:615006 OMIM:611090 OMIM:255995 ORPHA:168572 OMIM:617635 ORPHA:502434 OMIM:301043 ORPHA:521258 OMIM:607876 OMIM:301013 OMIM:612703 OMIM:601186 OMIM:611087 OMIM:308100 ORPHA:281090 OMIM:615596 OMIM:619714 ORPHA:370921 OMIM:615597 ORPHA:370924 OMIM:612164 OMIM:612073 ORPHA:1933 ORPHA:17 OMIM:245400 OMIM:617757 OMIM:272200 ORPHA:585 OMIM:272300 OMIM:619480 OMIM:220110 OMIM:618786 OMIM:618569 OMIM:300115 ORPHA:88644 ORPHA:319332 OMIM:612621 ORPHA:544254 OMIM:617389 OMIM:300802 ORPHA:284271 ORPHA:228410 OMIM:614839 OMIM:619052 OMIM:300966 ORPHA:480907 OMIM:617432 OMIM:615599 ORPHA:397951 OMIM:617126 OMIM:619972 OMIM:618906 OMIM:616878 ORPHA:480864 OMIM:619575 OMIM:276600 ORPHA:28378 OMIM:615663 OMIM:617695 OMIM:220500 OMIM:605021 ORPHA:397973 OMIM:619323 OMIM:248000 ORPHA:496641 OMIM:617193 ORPHA:496756 OMIM:617207 OMIM:241410 ORPHA:2323 OMIM:616944 OMIM:602342 ORPHA:487825 ORPHA:1617 OMIM:606053 ORPHA:1727 OMIM:188400 OMIM:619718 OMIM:618430 OMIM:610954 ORPHA:2896 OMIM:275350 OMIM:154500 OMIM:614815 ORPHA:2753 ORPHA:404493 OMIM:616949 ORPHA:320385 OMIM:614020 ORPHA:488642 OMIM:615145 OMIM:618798 OMIM:113620 OMIM:169100 OMIM:301066 OMIM:274700 OMIM:609192 OMIM:610168 ORPHA:276193 ORPHA:101150 OMIM:618800 OMIM:300957 ORPHA:457240 OMIM:613680 ORPHA:363444 OMIM:619989 OMIM:619908 ORPHA:505216 OMIM:617698 OMIM:304700 OMIM:609560 OMIM:617044 ORPHA:488618 OMIM:618050 OMIM:613002 ORPHA:1394 OMIM:213980 OMIM:617964 OMIM:617562 OMIM:617563 OMIM:620075 OMIM:608091 ORPHA:2752 OMIM:614424 OMIM:607454 ORPHA:98773 OMIM:619966 OMIM:216360 OMIM:610688 ORPHA:1194 OMIM:300872 ORPHA:209981 OMIM:617255 OMIM:618730 OMIM:617028 OMIM:619556 OMIM:619243 OMIM:614969 ORPHA:93357 OMIM:271510 OMIM:618947 OMIM:604292 ORPHA:1896 OMIM:617731 OMIM:620027 ORPHA:369847 OMIM:615356 ORPHA:369840 OMIM:618351 OMIM:618741 OMIM:617862 ORPHA:352530 OMIM:613192 OMIM:225750 OMIM:275120 OMIM:253250 OMIM:619428 OMIM:618825 OMIM:617061 ORPHA:476126 OMIM:617752 OMIM:617873 OMIM:616033 ORPHA:2596 ORPHA:663 OMIM:618454 OMIM:191100 OMIM:617026 OMIM:275100 OMIM:609152 OMIM:300210 OMIM:619244 OMIM:615985 OMIM:615541 ORPHA:391307 OMIM:611603 OMIM:156610 OMIM:610031 ORPHA:300573 ORPHA:300570 OMIM:614039 OMIM:612438 OMIM:251270 OMIM:611093 OMIM:209885 OMIM:271245 OMIM:617132 OMIM:300860 ORPHA:163956 ORPHA:238446 ORPHA:411511 ORPHA:98795 OMIM:244450 ORPHA:2707 OMIM:619639 OMIM:243800 ORPHA:2315 OMIM:619189 ORPHA:500180 OMIM:617672 OMIM:618076 OMIM:617899 OMIM:620028 OMIM:618744 ORPHA:79234 OMIM:616801 OMIM:613161 OMIM:300676 OMIM:615159 OMIM:276880 OMIM:300984 ORPHA:500055 OMIM:616863 ORPHA:401795 OMIM:300968 OMIM:300919 ORPHA:480880 OMIM:618760 OMIM:617802 OMIM:224050 OMIM:616683 ORPHA:466934 OMIM:216550 ORPHA:193 OMIM:607317 OMIM:619291 OMIM:619135 OMIM:619389 OMIM:619273 OMIM:615851 OMIM:607596 OMIM:616948 ORPHA:284169 ORPHA:466950 OMIM:617710 OMIM:619738 ORPHA:572798 OMIM:618707 OMIM:615817 OMIM:617520 ORPHA:513456 OMIM:617616 OMIM:618652 OMIM:618347 ORPHA:329284 OMIM:300894 OMIM:617977 ORPHA:401800 OMIM:604317 ORPHA:83472 OMIM:251300 OMIM:610185 OMIM:222300 OMIM:618453 OMIM:619648 OMIM:614322 OMIM:278700 OMIM:613159 OMIM:615777 ORPHA:370930 ORPHA:85194 OMIM:120433 ORPHA:1473 OMIM:617302 OMIM:617665 ORPHA:506358 OMIM:617557 ORPHA:79094 OMIM:602531 OMIM:618383 ORPHA:36367 OMIM:612337 ORPHA:3042 OMIM:259050 OMIM:614069 OMIM:619769 OMIM:617125 ORPHA:3454 OMIM:314580 OMIM:300799 OMIM:235730 ORPHA:261552 ORPHA:261537 ORPHA:401840 ORPHA:100996 OMIM:270700 OMIM:618736 OMIM:609637 OMIM:618659 OMIM:619522 OMIM:616083 OMIM:617260 OMIM:619188 OMIM:619557 OMIM:618619 OMIM:619488 OMIM:300803 OMIM:260565 OMIM:603671 ORPHA:1827 OMIM:617865
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.