Human Phenotype Ontology 
Grandparent Node:
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Neurodevelopmental abnormality (HP:0012759)help
Parent Node:
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Intellectual disability (HP:0001249)help
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Intellectual disability, mild (HP:0001256)help
Term ID: 1256
Name: Intellectual disability, mild
Synonym: Intellectual disability, mild; Mental retardation, borderline-mild; Mental retardation, mild; Mild and nonprogressive mental retardation; Mild mental retardation
Definition: Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Comments:
Reference: HP:0001256
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandIntellectual disability, borderline (HP:0006889) help
..expandIntellectual disability, moderate (HP:0002342) help
..expandIntellectual disability, profound (HP:0002187) help
..expandIntellectual disability, progressive (HP:0006887) help
..expandIntellectual disability, severe (HP:0010864) 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:0001256HP:0001256Intellectual disability, mild0AASS CL E G H1015717366OMIM:238700Hyperlysinemia, type I.15
HP:0001256HP:0001256Intellectual disability, mild0AASS CL E G H1015717366ORPHA:3124SaccharopinuriaHP:0040283 - Occasional15
HP:0001256HP:0001256Intellectual disability, mild0ABCA2 CL E G H2032OMIM:618808INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0001256HP:0001256Intellectual disability, mild0ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia.254
HP:0001256HP:0001256Intellectual disability, mild0ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040282 - Frequent254
HP:0001256HP:0001256Intellectual disability, mild0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040284 - Very rare91
HP:0001256HP:0001256Intellectual disability, mild0ACOX2 CL E G H8309120OMIM:617308Bile acid synthesis defect, congenital, 6.2
HP:0001256HP:0001256Intellectual disability, mild0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0001256HP:0001256Intellectual disability, mild0ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset.72
HP:0001256HP:0001256Intellectual disability, mild0ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressivaHP:0040284 - Very rare49
HP:0001256HP:0001256Intellectual disability, mild0ADAMTS10 CL E G H8179413201ORPHA:3449Weill-Marchesani syndromeHP:0040283 - Occasional63
HP:0001256HP:0001256Intellectual disability, mild0ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 163
HP:0001256HP:0001256Intellectual disability, mild0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent116
HP:0001256HP:0001256Intellectual disability, mild0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromeHP:0040282 - Frequent86
HP:0001256HP:0001256Intellectual disability, mild0AGL CL E G H178321ORPHA:366Glycogen storage disease due to glycogen debranching enzyme deficiencyHP:0040281 - Very frequent216
HP:0001256HP:0001256Intellectual disability, mild0AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0001256HP:0001256Intellectual disability, mild0ALAD CL E G H210395ORPHA:100924Porphyria due to ALA dehydratase deficiencyHP:0040283 - Occasional62
HP:0001256HP:0001256Intellectual disability, mild0ALG1 CL E G H5605218294ORPHA:79327ALG1-CDGHP:0040282 - Frequent58
HP:0001256HP:0001256Intellectual disability, mild0ALX4 CL E G H60529450ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndromeHP:0040281 - Very frequent132
HP:0001256HP:0001256Intellectual disability, mild0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosisHP:0040282 - Frequent34
HP:0001256HP:0001256Intellectual disability, mild0ANK3 CL E G H288494ORPHA:356996ANK3-related intellectual disability-sleep disturbance syndromeHP:0040283 - Occasional176
HP:0001256HP:0001256Intellectual disability, mild0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040283 - Occasional64
HP:0001256HP:0001256Intellectual disability, mild0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0001256HP:0001256Intellectual disability, mild0APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletionHP:0040282 - Frequent3179
HP:0001256HP:0001256Intellectual disability, mild0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040282 - Frequent1
HP:0001256HP:0001256Intellectual disability, mild0ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndromeHP:0040281 - Very frequent219
HP:0001256HP:0001256Intellectual disability, mild0ARPC4 CL E G H10093707OMIM:620141
HP:0001256HP:0001256Intellectual disability, mild0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent1
HP:0001256HP:0001256Intellectual disability, mild0ARX CL E G H17030218060ORPHA:94083Partington syndromeHP:0040282 - Frequent166
HP:0001256HP:0001256Intellectual disability, mild0ATL1 CL E G H5106211231OMIM:182600Spastic paraplegia 3, autosomal dominantHP:0040283 - Occasional71
HP:0001256HP:0001256Intellectual disability, mild0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0001256HP:0001256Intellectual disability, mild0ATP2A2 CL E G H488812OMIM:124200Darier-White disease.86
HP:0001256HP:0001256Intellectual disability, mild0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent
HP:0001256HP:0001256Intellectual disability, mild0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0001256HP:0001256Intellectual disability, mild0B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive.25
HP:0001256HP:0001256Intellectual disability, mild0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0001256HP:0001256Intellectual disability, mild0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional99
HP:0001256HP:0001256Intellectual disability, mild0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2HP:0040283 - Occasional99
HP:0001256HP:0001256Intellectual disability, mild0BLM CL E G H6411058OMIM:210900Bloom syndromeHP:0040283 - Occasional314
HP:0001256HP:0001256Intellectual disability, mild0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional385
HP:0001256HP:0001256Intellectual disability, mild0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040281 - Very frequent2
HP:0001256HP:0001256Intellectual disability, mild0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional276
HP:0001256HP:0001256Intellectual disability, mild0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040282 - Frequent7
HP:0001256HP:0001256Intellectual disability, mild0BRWD3 CL E G H25406517342OMIM:300659MENTAL RETARDATION, X-LINKED 93; MRX93104
HP:0001256HP:0001256Intellectual disability, mild0BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2.105
HP:0001256HP:0001256Intellectual disability, mild0C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome.13
HP:0001256HP:0001256Intellectual disability, mild0CA8 CL E G H7671382OMIM:613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3.8
HP:0001256HP:0001256Intellectual disability, mild0CABP4 CL E G H570101386ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare94
HP:0001256HP:0001256Intellectual disability, mild0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation.34
HP:0001256HP:0001256Intellectual disability, mild0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040281 - Very frequent34
HP:0001256HP:0001256Intellectual disability, mild0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001256HP:0001256Intellectual disability, mild0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome2
HP:0001256HP:0001256Intellectual disability, mild0CDK6 CL E G H10211777OMIM:616080Microcephaly 12, primary, autosomal recessive.6
HP:0001256HP:0001256Intellectual disability, mild0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional405
HP:0001256HP:0001256Intellectual disability, mild0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0001256HP:0001256Intellectual disability, mild0CHRNA2 CL E G H11351956ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare188
HP:0001256HP:0001256Intellectual disability, mild0CHRNA4 CL E G H11371958ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare225
HP:0001256HP:0001256Intellectual disability, mild0CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0001256HP:0001256Intellectual disability, mild0CHRNB2 CL E G H11411962ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare88
HP:0001256HP:0001256Intellectual disability, mild0CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome.45
HP:0001256HP:0001256Intellectual disability, mild0COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040282 - Frequent52
HP:0001256HP:0001256Intellectual disability, mild0COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0001256HP:0001256Intellectual disability, mild0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent6
HP:0001256HP:0001256Intellectual disability, mild0CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional1
HP:0001256HP:0001256Intellectual disability, mild0CRBN CL E G H5118530185OMIM:607417Mental retardation, autosomal recessive 2.19
HP:0001256HP:0001256Intellectual disability, mild0CRH CL E G H13922355ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare1
HP:0001256HP:0001256Intellectual disability, mild0CSTB CL E G H14762482OMIM:254800Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)51
HP:0001256HP:0001256Intellectual disability, mild0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndromeHP:0040281 - Very frequent17
HP:0001256HP:0001256Intellectual disability, mild0CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional88
HP:0001256HP:0001256Intellectual disability, mild0CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0001256HP:0001256Intellectual disability, mild0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0001256HP:0001256Intellectual disability, mild0DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16HP:0040283 - Occasional108
HP:0001256HP:0001256Intellectual disability, mild0DARS1 CL E G H16152678OMIM:615281HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0001256HP:0001256Intellectual disability, mild0DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndromeHP:0040281 - Very frequent87
HP:0001256HP:0001256Intellectual disability, mild0DCC CL E G H16302701ORPHA:238722Familial congenital mirror movementsHP:0040284 - Very rare36
HP:0001256HP:0001256Intellectual disability, mild0DCC CL E G H16302701OMIM:157600Mirror movements 1HP:0040284 - Very rare36
HP:0001256HP:0001256Intellectual disability, mild0DCDC2 CL E G H5147318141OMIM:617394Sclerosing cholangitis, neonatal8
HP:0001256HP:0001256Intellectual disability, mild0DEPDC5 CL E G H968118423ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare172
HP:0001256HP:0001256Intellectual disability, mild0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency.82
HP:0001256HP:0001256Intellectual disability, mild0DLK1 CL E G H87882907ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040281 - Very frequent1
HP:0001256HP:0001256Intellectual disability, mild0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy.1496
HP:0001256HP:0001256Intellectual disability, mild0DNAJC12 CL E G H5652128908OMIM:617384Hyperphenylalaninemia, MILD, non-bh4-deficient3
HP:0001256HP:0001256Intellectual disability, mild0DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 1.5
HP:0001256HP:0001256Intellectual disability, mild0DNAJC3 CL E G H56119439ORPHA:445062Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndromeHP:0040283 - Occasional3
HP:0001256HP:0001256Intellectual disability, mild0DNAL4 CL E G H101262955ORPHA:238722Familial congenital mirror movementsHP:0040284 - Very rare2
HP:0001256HP:0001256Intellectual disability, mild0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndromeHP:0040283 - Occasional44
HP:0001256HP:0001256Intellectual disability, mild0DONSON CL E G H299802993OMIM:617604Microcephaly, short stature, and limb abnormalitiesHP:0040284 - Very rare9
HP:0001256HP:0001256Intellectual disability, mild0DPYD CL E G H18063012ORPHA:2939481p21.3 microdeletion syndromeHP:0040281 - Very frequent144
HP:0001256HP:0001256Intellectual disability, mild0DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 2313
HP:0001256HP:0001256Intellectual disability, mild0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040283 - Occasional65
HP:0001256HP:0001256Intellectual disability, mild0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040284 - Very rare134
HP:0001256HP:0001256Intellectual disability, mild0EDC3 CL E G H8015326114OMIM:616460Mental retardation, autosomal recessive 50.1
HP:0001256HP:0001256Intellectual disability, mild0EMC10 CL E G H28436127609OMIM:619264NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0001256HP:0001256Intellectual disability, mild0EP300 CL E G H20333373OMIM:613684Rubinstein-Taybi syndrome 2.250
HP:0001256HP:0001256Intellectual disability, mild0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome.158
HP:0001256HP:0001256Intellectual disability, mild0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent199
HP:0001256HP:0001256Intellectual disability, mild0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent55
HP:0001256HP:0001256Intellectual disability, mild0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndromeHP:0040281 - Very frequent36
HP:0001256HP:0001256Intellectual disability, mild0EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive facies.
HP:0001256HP:0001256Intellectual disability, mild0EXT2 CL E G H21323513ORPHA:466926Seizures-scoliosis-macrocephaly syndromeHP:0040282 - Frequent102
HP:0001256HP:0001256Intellectual disability, mild0EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0001256HP:0001256Intellectual disability, mild0FAT4 CL E G H7963323109OMIM:616006HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2114
HP:0001256HP:0001256Intellectual disability, mild0FBN1 CL E G H22003603ORPHA:3449Weill-Marchesani syndromeHP:0040283 - Occasional1361
HP:0001256HP:0001256Intellectual disability, mild0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant.1361
HP:0001256HP:0001256Intellectual disability, mild0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0001256HP:0001256Intellectual disability, mild0FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 27HP:0040283 - Occasional47
HP:0001256HP:0001256Intellectual disability, mild0FGFR2 CL E G H22633689ORPHA:168624Familial scaphocephaly syndrome, McGillivray typeHP:0040282 - Frequent175
HP:0001256HP:0001256Intellectual disability, mild0FIBP CL E G H91583705OMIM:617107Thauvin-Robinet-Faivre syndrome.2
HP:0001256HP:0001256Intellectual disability, mild0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional157
HP:0001256HP:0001256Intellectual disability, mild0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome.332
HP:0001256HP:0001256Intellectual disability, mild0FLNA CL E G H23163754OMIM:300049Heterotopia, periventricular, X-linked dominant.493
HP:0001256HP:0001256Intellectual disability, mild0FLNA CL E G H23163754ORPHA:90650Otopalatodigital syndrome type 1HP:0040281 - Very frequent493
HP:0001256HP:0001256Intellectual disability, mild0FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I.493
HP:0001256HP:0001256Intellectual disability, mild0FMR1 CL E G H23323775ORPHA:261483Xq27.3q28 duplication syndromeHP:0040281 - Very frequent30
HP:0001256HP:0001256Intellectual disability, mild0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040283 - Occasional184
HP:0001256HP:0001256Intellectual disability, mild0FREM1 CL E G H15832623399OMIM:608980Bifid nose with or without anorectal and renal anomalies198
HP:0001256HP:0001256Intellectual disability, mild0FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional109
HP:0001256HP:0001256Intellectual disability, mild0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional5
HP:0001256HP:0001256Intellectual disability, mild0GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040282 - Frequent351
HP:0001256HP:0001256Intellectual disability, mild0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndromeHP:0040281 - Very frequent87
HP:0001256HP:0001256Intellectual disability, mild0GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticityHP:0040284 - Very rare30
HP:0001256HP:0001256Intellectual disability, mild0GDI1 CL E G H26644226OMIM:300849MENTAL RETARDATION, X-LINKED 41; MRX4120
HP:0001256HP:0001256Intellectual disability, mild0GLB1 CL E G H27204298OMIM:230650Gm1-gangliosidosis, type III.120
HP:0001256HP:0001256Intellectual disability, mild0GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndromeHP:0040283 - Occasional270
HP:0001256HP:0001256Intellectual disability, mild0GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0001256HP:0001256Intellectual disability, mild0GLRA2 CL E G H27424327OMIM:301076INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0001256HP:0001256Intellectual disability, mild0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional34
HP:0001256HP:0001256Intellectual disability, mild0GMPPB CL E G H2992522932OMIM:615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14HP:0040283 - Occasional34
HP:0001256HP:0001256Intellectual disability, mild0GNE CL E G H1002023657ORPHA:3166SialuriaHP:0040281 - Very frequent173
HP:0001256HP:0001256Intellectual disability, mild0GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0001256HP:0001256Intellectual disability, mild0GNPTG CL E G H8457223026OMIM:252605Mucolipidosis III gamma.57
HP:0001256HP:0001256Intellectual disability, mild0GORAB CL E G H9234425676ORPHA:2078Geroderma osteodysplasticaHP:0040283 - Occasional52
HP:0001256HP:0001256Intellectual disability, mild0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent8
HP:0001256HP:0001256Intellectual disability, mild0GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndromeHP:0040282 - Frequent
HP:0001256HP:0001256Intellectual disability, mild0GPSM2 CL E G H2989929501OMIM:604213CHUDLEY-MCCULLOUGH SYNDROME; CMCS74
HP:0001256HP:0001256Intellectual disability, mild0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0001256HP:0001256Intellectual disability, mild0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040283 - Occasional108
HP:0001256HP:0001256Intellectual disability, mild0GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 23HP:0040283 - Occasional30
HP:0001256HP:0001256Intellectual disability, mild0H19 CL E G H2831204713ORPHA:2128Isolated hemihyperplasiaHP:0040282 - Frequent4
HP:0001256HP:0001256Intellectual disability, mild0HCN4 CL E G H1002116882OMIM:619521EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18185
HP:0001256HP:0001256Intellectual disability, mild0HDAC6 CL E G H1001314064OMIM:300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.2
HP:0001256HP:0001256Intellectual disability, mild0HDAC6 CL E G H1001314064ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe typeHP:0040282 - Frequent2
HP:0001256HP:0001256Intellectual disability, mild0HEATR3 CL E G H5502726087OMIM:620072
HP:0001256HP:0001256Intellectual disability, mild0HEPACAM CL E G H22029626361OMIM:604004Megalencephalic leukoencephalopathy with subcortical cysts 1.82
HP:0001256HP:0001256Intellectual disability, mild0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040284 - Very rare12
HP:0001256HP:0001256Intellectual disability, mild0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent3
HP:0001256HP:0001256Intellectual disability, mild0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040281 - Very frequent2
HP:0001256HP:0001256Intellectual disability, mild0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040283 - Occasional35
HP:0001256HP:0001256Intellectual disability, mild0HPD CL E G H32425147OMIM:276710Tyrosinemia, type III.23
HP:0001256HP:0001256Intellectual disability, mild0HPRT1 CL E G H32515157ORPHA:510Lesch-Nyhan syndromeHP:0040281 - Very frequent76
HP:0001256HP:0001256Intellectual disability, mild0HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 198
HP:0001256HP:0001256Intellectual disability, mild0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0001256HP:0001256Intellectual disability, mild0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040281 - Very frequent91
HP:0001256HP:0001256Intellectual disability, mild0IGF2 CL E G H34815466ORPHA:2128Isolated hemihyperplasiaHP:0040282 - Frequent9
HP:0001256HP:0001256Intellectual disability, mild0INPP5E CL E G H5662321474ORPHA:75858MORM syndromeHP:0040282 - Frequent111
HP:0001256HP:0001256Intellectual disability, mild0ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0001256HP:0001256Intellectual disability, mild0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1HP:0040283 - Occasional257
HP:0001256HP:0001256Intellectual disability, mild0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0001256HP:0001256Intellectual disability, mild0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent2
HP:0001256HP:0001256Intellectual disability, mild0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040282 - Frequent283
HP:0001256HP:0001256Intellectual disability, mild0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040282 - Frequent283
HP:0001256HP:0001256Intellectual disability, mild0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040282 - Frequent17
HP:0001256HP:0001256Intellectual disability, mild0KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040282 - Frequent23
HP:0001256HP:0001256Intellectual disability, mild0KCNQ1OT1 CL E G H109846295ORPHA:2128Isolated hemihyperplasiaHP:0040282 - Frequent1
HP:0001256HP:0001256Intellectual disability, mild0KCNT1 CL E G H5758218865ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare321
HP:0001256HP:0001256Intellectual disability, mild0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 153
HP:0001256HP:0001256Intellectual disability, mild0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation.46
HP:0001256HP:0001256Intellectual disability, mild0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040283 - Occasional38
HP:0001256HP:0001256Intellectual disability, mild0KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0001256HP:0001256Intellectual disability, mild0KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset11
HP:0001256HP:0001256Intellectual disability, mild0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1660
HP:0001256HP:0001256Intellectual disability, mild0L1CAM CL E G H38976470ORPHA:306617X-linked complicated spastic paraplegia type 1HP:0040282 - Frequent134
HP:0001256HP:0001256Intellectual disability, mild0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040281 - Very frequent68
HP:0001256HP:0001256Intellectual disability, mild0LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional125
HP:0001256HP:0001256Intellectual disability, mild0LRP5 CL E G H40416697OMIM:259770Osteoporosis-Pseudoglioma syndrome.125
HP:0001256HP:0001256Intellectual disability, mild0LTBP2 CL E G H40536715ORPHA:3449Weill-Marchesani syndromeHP:0040283 - Occasional123
HP:0001256HP:0001256Intellectual disability, mild0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040282 - Frequent63
HP:0001256HP:0001256Intellectual disability, mild0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent63
HP:0001256HP:0001256Intellectual disability, mild0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional63
HP:0001256HP:0001256Intellectual disability, mild0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional63
HP:0001256HP:0001256Intellectual disability, mild0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040282 - Frequent93
HP:0001256HP:0001256Intellectual disability, mild0MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult formHP:0040281 - Very frequent136
HP:0001256HP:0001256Intellectual disability, mild0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040282 - Frequent136
HP:0001256HP:0001256Intellectual disability, mild0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 2HP:0040283 - Occasional11
HP:0001256HP:0001256Intellectual disability, mild0MARS1 CL E G H41416898ORPHA:401835Autosomal recessive spastic paraplegia type 70HP:0040282 - Frequent
HP:0001256HP:0001256Intellectual disability, mild0MARS2 CL E G H9293525133ORPHA:314603Autosomal recessive spastic ataxia with leukoencephalopathyHP:0040282 - Frequent25
HP:0001256HP:0001256Intellectual disability, mild0MASP1 CL E G H56486901OMIM:2579203mc syndrome 1.21
HP:0001256HP:0001256Intellectual disability, mild0MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3
HP:0001256HP:0001256Intellectual disability, mild0MECOM CL E G H21223498OMIM:616738RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT24
HP:0001256HP:0001256Intellectual disability, mild0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional950
HP:0001256HP:0001256Intellectual disability, mild0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0001256HP:0001256Intellectual disability, mild0MEG3 CL E G H5538414575ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040281 - Very frequent1
HP:0001256HP:0001256Intellectual disability, mild0METTL23 CL E G H12451226988OMIM:615942Mental retardation, autosomal recessive 4413
HP:0001256HP:0001256Intellectual disability, mild0MGP CL E G H42567060ORPHA:85202Keutel syndromeHP:0040282 - Frequent33
HP:0001256HP:0001256Intellectual disability, mild0MGP CL E G H42567060OMIM:245150Keutel syndrome.33
HP:0001256HP:0001256Intellectual disability, mild0MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0001256HP:0001256Intellectual disability, mild0MID1 CL E G H42817095OMIM:300000Opitz gbbb syndrome, type I57
HP:0001256HP:0001256Intellectual disability, mild0MLC1 CL E G H2320917082OMIM:604004Megalencephalic leukoencephalopathy with subcortical cysts 1.112
HP:0001256HP:0001256Intellectual disability, mild0MSMO1 CL E G H630710545OMIM:616834Microcephaly, congenital cataract, and psoriasiform dermatitis.3
HP:0001256HP:0001256Intellectual disability, mild0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040282 - Frequent
HP:0001256HP:0001256Intellectual disability, mild0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0001256HP:0001256Intellectual disability, mild0MTHFD1 CL E G H45227432OMIM:617780Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia.5
HP:0001256HP:0001256Intellectual disability, mild0MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55HP:0040282 - Frequent
HP:0001256HP:0001256Intellectual disability, mild0MTSS2 CL E G H9215425094OMIM:620086
HP:0001256HP:0001256Intellectual disability, mild0MYCN CL E G H46137559OMIM:164280Feingold syndrome 135
HP:0001256HP:0001256Intellectual disability, mild0NAGA CL E G H46687631ORPHA:79280Alpha-N-acetylgalactosaminidase deficiency type 2HP:0040281 - Very frequent47
HP:0001256HP:0001256Intellectual disability, mild0NAGA CL E G H46687631OMIM:609242Kanzaki disease.47
HP:0001256HP:0001256Intellectual disability, mild0NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24HP:0040283 - Occasional34
HP:0001256HP:0001256Intellectual disability, mild0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent
HP:0001256HP:0001256Intellectual disability, mild0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional
HP:0001256HP:0001256Intellectual disability, mild0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional
HP:0001256HP:0001256Intellectual disability, mild0NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional39
HP:0001256HP:0001256Intellectual disability, mild0NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I.1952
HP:0001256HP:0001256Intellectual disability, mild0NFE2L2 CL E G H47807782OMIM:617744Immunodeficiency, developmental delay, and hypohomocysteinemia.20
HP:0001256HP:0001256Intellectual disability, mild0NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndromeHP:0040283 - Occasional40
HP:0001256HP:0001256Intellectual disability, mild0NGF CL E G H48037808ORPHA:64752Hereditary sensory and autonomic neuropathy type 5HP:0040282 - Frequent20
HP:0001256HP:0001256Intellectual disability, mild0NGF CL E G H48037808OMIM:608654Neuropathy, hereditary sensory and autonomic, type VHP:0040283 - Occasional20
HP:0001256HP:0001256Intellectual disability, mild0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040283 - Occasional51
HP:0001256HP:0001256Intellectual disability, mild0NLGN4X CL E G H5750214287OMIM:300495Autism, susceptibility to, X-linked 257
HP:0001256HP:0001256Intellectual disability, mild0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040282 - Frequent10
HP:0001256HP:0001256Intellectual disability, mild0NR4A2 CL E G H49297981OMIM:61991127
HP:0001256HP:0001256Intellectual disability, mild0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040282 - Frequent544
HP:0001256HP:0001256Intellectual disability, mild0NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects.34
HP:0001256HP:0001256Intellectual disability, mild0NTN1 CL E G H94238029ORPHA:238722Familial congenital mirror movementsHP:0040284 - Very rare
HP:0001256HP:0001256Intellectual disability, mild0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional1
HP:0001256HP:0001256Intellectual disability, mild0NTRK1 CL E G H49148031ORPHA:64752Hereditary sensory and autonomic neuropathy type 5HP:0040282 - Frequent97
HP:0001256HP:0001256Intellectual disability, mild0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent7
HP:0001256HP:0001256Intellectual disability, mild0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent121
HP:0001256HP:0001256Intellectual disability, mild0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional121
HP:0001256HP:0001256Intellectual disability, mild0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional121
HP:0001256HP:0001256Intellectual disability, mild0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0001256HP:0001256Intellectual disability, mild0PAFAH1B1 CL E G H50488574ORPHA:95232Lissencephaly due to LIS1 mutationHP:0040283 - Occasional231
HP:0001256HP:0001256Intellectual disability, mild0PCDH19 CL E G H5752614270ORPHA:101039Female restricted epilepsy with intellectual disabilityHP:0040283 - Occasional225
HP:0001256HP:0001256Intellectual disability, mild0PCNA CL E G H51118729ORPHA:438134PCNA-related progressive neurodegenerative photosensitivity syndromeHP:0040282 - Frequent1
HP:0001256HP:0001256Intellectual disability, mild0PDSS1 CL E G H2359017759OMIM:614651Coenzyme Q10 deficiency, primary, 2.40
HP:0001256HP:0001256Intellectual disability, mild0PEX10 CL E G H51928851ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiencyHP:0040282 - Frequent75
HP:0001256HP:0001256Intellectual disability, mild0PEX11B CL E G H87998853OMIM:614920Peroxisome biogenesis disorder 14B4
HP:0001256HP:0001256Intellectual disability, mild0PGAP1 CL E G H8005525712ORPHA:401820Autosomal recessive spastic paraplegia type 67HP:0040282 - Frequent20
HP:0001256HP:0001256Intellectual disability, mild0PGAP2 CL E G H2731517893OMIM:614207Hyperphosphatasia with mental retardation syndrome 3HP:0040283 - Occasional8
HP:0001256HP:0001256Intellectual disability, mild0PHF8 CL E G H2313320672OMIM:300263Siderius X-linked mental retardation syndrome23
HP:0001256HP:0001256Intellectual disability, mild0PHF8 CL E G H2313320672ORPHA:85287X-linked intellectual disability, Siderius typeHP:0040281 - Very frequent23
HP:0001256HP:0001256Intellectual disability, mild0PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 3HP:0040284 - Very rare77
HP:0001256HP:0001256Intellectual disability, mild0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5162
HP:0001256HP:0001256Intellectual disability, mild0PITRM1 CL E G H1053117663OMIM:619405SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR301
HP:0001256HP:0001256Intellectual disability, mild0PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic formHP:0040281 - Very frequent60
HP:0001256HP:0001256Intellectual disability, mild0PLP1 CL E G H53549086OMIM:312920Spastic paraplegia 2, X-linked60
HP:0001256HP:0001256Intellectual disability, mild0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040283 - Occasional65
HP:0001256HP:0001256Intellectual disability, mild0PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome103
HP:0001256HP:0001256Intellectual disability, mild0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040282 - Frequent35
HP:0001256HP:0001256Intellectual disability, mild0POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch typeHP:0040281 - Very frequent2
HP:0001256HP:0001256Intellectual disability, mild0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138
HP:0001256HP:0001256Intellectual disability, mild0POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism.67
HP:0001256HP:0001256Intellectual disability, mild0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional180
HP:0001256HP:0001256Intellectual disability, mild0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional18
HP:0001256HP:0001256Intellectual disability, mild0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional213
HP:0001256HP:0001256Intellectual disability, mild0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional221
HP:0001256HP:0001256Intellectual disability, mild0POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndromeHP:0040282 - Frequent40
HP:0001256HP:0001256Intellectual disability, mild0POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040281 - Very frequent
HP:0001256HP:0001256Intellectual disability, mild0PQBP1 CL E G H100849330ORPHA:93945X-linked intellectual disability, Porteous typeHP:0040281 - Very frequent28
HP:0001256HP:0001256Intellectual disability, mild0PQBP1 CL E G H100849330ORPHA:93950X-linked intellectual disability, Sutherland-Haan typeHP:0040283 - Occasional28
HP:0001256HP:0001256Intellectual disability, mild0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040282 - Frequent6
HP:0001256HP:0001256Intellectual disability, mild0PRPS1 CL E G H56319462ORPHA:1187Lethal ataxia with deafness and optic atrophyHP:0040282 - Frequent49
HP:0001256HP:0001256Intellectual disability, mild0PRRT2 CL E G H11247630500ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040284 - Very rare94
HP:0001256HP:0001256Intellectual disability, mild0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0001256HP:0001256Intellectual disability, mild0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040281 - Very frequent4
HP:0001256HP:0001256Intellectual disability, mild0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1.948
HP:0001256HP:0001256Intellectual disability, mild0PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional948
HP:0001256HP:0001256Intellectual disability, mild0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1.291
HP:0001256HP:0001256Intellectual disability, mild0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional291
HP:0001256HP:0001256Intellectual disability, mild0PYCR1 CL E G H58319721ORPHA:2078Geroderma osteodysplasticaHP:0040283 - Occasional53
HP:0001256HP:0001256Intellectual disability, mild0RAB39B CL E G H11644216499OMIM:311510Waisman syndrome34
HP:0001256HP:0001256Intellectual disability, mild0RAB3GAP2 CL E G H2578217168ORPHA:401830Autosomal recessive spastic paraplegia type 69HP:0040282 - Frequent135
HP:0001256HP:0001256Intellectual disability, mild0RAD51 CL E G H58889817ORPHA:238722Familial congenital mirror movementsHP:0040284 - Very rare9
HP:0001256HP:0001256Intellectual disability, mild0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional212
HP:0001256HP:0001256Intellectual disability, mild0RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndromeHP:0040281 - Very frequent150
HP:0001256HP:0001256Intellectual disability, mild0RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent
HP:0001256HP:0001256Intellectual disability, mild0RBPJ CL E G H35165724OMIM:614814Adams-Oliver syndrome 33
HP:0001256HP:0001256Intellectual disability, mild0RCBTB1 CL E G H5521318243OMIM:617175RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA8
HP:0001256HP:0001256Intellectual disability, mild0RNF135 CL E G H8428221158ORPHA:137634Overgrowth-macrocephaly-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0001256HP:0001256Intellectual disability, mild0RNU4ATAC CL E G H10015168334016OMIM:226960EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS15
HP:0001256HP:0001256Intellectual disability, mild0RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0001256HP:0001256Intellectual disability, mild0RPS6KA3 CL E G H619710432OMIM:300844MENTAL RETARDATION, X-LINKED 19; MRX1965
HP:0001256HP:0001256Intellectual disability, mild0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0001256HP:0001256Intellectual disability, mild0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040282 - Frequent2
HP:0001256HP:0001256Intellectual disability, mild0RTL1 CL E G H38801514665ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040281 - Very frequent
HP:0001256HP:0001256Intellectual disability, mild0RTN4IP1 CL E G H8481618647OMIM:616732OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA102
HP:0001256HP:0001256Intellectual disability, mild0RUBCN CL E G H971128991OMIM:615705SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR159
HP:0001256HP:0001256Intellectual disability, mild0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional1200
HP:0001256HP:0001256Intellectual disability, mild0SARDH CL E G H175710536ORPHA:3129SarcosinemiaHP:0040283 - Occasional4
HP:0001256HP:0001256Intellectual disability, mild0SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 1.26
HP:0001256HP:0001256Intellectual disability, mild0SCN8A CL E G H633410596OMIM:614306Cognitive impairment with or without cerebellar ataxia357
HP:0001256HP:0001256Intellectual disability, mild0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040282 - Frequent5
HP:0001256HP:0001256Intellectual disability, mild0SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 21HP:0040283 - Occasional5
HP:0001256HP:0001256Intellectual disability, mild0SDCCAG8 CL E G H1080610671OMIM:613615SENIOR-LOKEN SYNDROME 7; SLSN761
HP:0001256HP:0001256Intellectual disability, mild0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0001256HP:0001256Intellectual disability, mild0SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunctionHP:0040282 - Frequent
HP:0001256HP:0001256Intellectual disability, mild0SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0001256HP:0001256Intellectual disability, mild0SETBP1 CL E G H2604015573ORPHA:436151Intellectual disability-expressive aphasia-facial dysmorphism syndromeHP:0040282 - Frequent143
HP:0001256HP:0001256Intellectual disability, mild0SETD1B CL E G H2306729187OMIM:619000INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0001256HP:0001256Intellectual disability, mild0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040282 - Frequent60
HP:0001256HP:0001256Intellectual disability, mild0SFXN4 CL E G H11955916088OMIM:615578Combined oxidative phosphorylation deficiency 18.17
HP:0001256HP:0001256Intellectual disability, mild0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0001256HP:0001256Intellectual disability, mild0SHH CL E G H646910848OMIM:147250Solitary median maxillary central incisor67
HP:0001256HP:0001256Intellectual disability, mild0SIN3A CL E G H2594219353ORPHA:500166SIN3A-related intellectual disability syndrome due to a point mutationHP:0040281 - Very frequent9
HP:0001256HP:0001256Intellectual disability, mild0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome.9
HP:0001256HP:0001256Intellectual disability, mild0SIN3B CL E G H2330919354ORPHA:500166SIN3A-related intellectual disability syndrome due to a point mutationHP:0040281 - Very frequent
HP:0001256HP:0001256Intellectual disability, mild0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040282 - Frequent
HP:0001256HP:0001256Intellectual disability, mild0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040282 - Frequent
HP:0001256HP:0001256Intellectual disability, mild0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy163
HP:0001256HP:0001256Intellectual disability, mild0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040283 - Occasional57
HP:0001256HP:0001256Intellectual disability, mild0SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 22
HP:0001256HP:0001256Intellectual disability, mild0SLC25A24 CL E G H2995720662ORPHA:2095Gorlin-Chaudhry-Moss syndromeHP:0040283 - Occasional
HP:0001256HP:0001256Intellectual disability, mild0SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0001256HP:0001256Intellectual disability, mild0SLC29A3 CL E G H5531523096ORPHA:168569H syndromeHP:0040283 - Occasional68
HP:0001256HP:0001256Intellectual disability, mild0SLC2A1 CL E G H651311005ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040284 - Very rare255
HP:0001256HP:0001256Intellectual disability, mild0SLC35A3 CL E G H2344311023ORPHA:370943Autism spectrum disorder-epilepsy-arthrogryposis syndromeHP:0040282 - Frequent2
HP:0001256HP:0001256Intellectual disability, mild0SMARCA2 CL E G H659511098ORPHA:2728Blepharophimosis-intellectual disability syndrome, Ohdo typeHP:0040281 - Very frequent146
HP:0001256HP:0001256Intellectual disability, mild0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional135
HP:0001256HP:0001256Intellectual disability, mild0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040283 - Occasional19
HP:0001256HP:0001256Intellectual disability, mild0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent37
HP:0001256HP:0001256Intellectual disability, mild0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional37
HP:0001256HP:0001256Intellectual disability, mild0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional37
HP:0001256HP:0001256Intellectual disability, mild0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040282 - Frequent37
HP:0001256HP:0001256Intellectual disability, mild0SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 27.14
HP:0001256HP:0001256Intellectual disability, mild0SOX3 CL E G H665811199OMIM:300123Mental retardation, X-linked, with isolated growth hormone deficiency.24
HP:0001256HP:0001256Intellectual disability, mild0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0001256HP:0001256Intellectual disability, mild0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional20
HP:0001256HP:0001256Intellectual disability, mild0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040281 - Very frequent287
HP:0001256HP:0001256Intellectual disability, mild0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0001256HP:0001256Intellectual disability, mild0SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxiaHP:0040282 - Frequent126
HP:0001256HP:0001256Intellectual disability, mild0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040282 - Frequent138
HP:0001256HP:0001256Intellectual disability, mild0SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1.
HP:0001256HP:0001256Intellectual disability, mild0SRPX2 CL E G H2728630668OMIM:300643Rolandic epilepsy, mental retardation, and speech dyspraxia.50
HP:0001256HP:0001256Intellectual disability, mild0SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040283 - Occasional23
HP:0001256HP:0001256Intellectual disability, mild0STAC3 CL E G H24632928423ORPHA:168572Native American myopathyHP:0040284 - Very rare14
HP:0001256HP:0001256Intellectual disability, mild0SUFU CL E G H5168416466OMIM:617757Joubert syndrome 32.124
HP:0001256HP:0001256Intellectual disability, mild0SYN1 CL E G H685311494OMIM:300115Mental retardation, X-linked 50.58
HP:0001256HP:0001256Intellectual disability, mild0TAC3 CL E G H686611521OMIM:614839Hypogonadotropic hypogonadism 10 with or without anosmiaHP:0040283 - Occasional6
HP:0001256HP:0001256Intellectual disability, mild0TAF13 CL E G H688411546OMIM:617432Mental retardation, autosomal recessive 60.2
HP:0001256HP:0001256Intellectual disability, mild0TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional271
HP:0001256HP:0001256Intellectual disability, mild0TBC1D2B CL E G H2310229183ORPHA:397973Intellectual disability-obesity-prognathism-eye and skin anomalies syndromeHP:0040282 - Frequent
HP:0001256HP:0001256Intellectual disability, mild0TBC1D2B CL E G H2310229183OMIM:619323NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0001256HP:0001256Intellectual disability, mild0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent32
HP:0001256HP:0001256Intellectual disability, mild0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities1
HP:0001256HP:0001256Intellectual disability, mild0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0001256HP:0001256Intellectual disability, mild0TFAP2B CL E G H702111743OMIM:169100Char syndrome.104
HP:0001256HP:0001256Intellectual disability, mild0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040283 - Occasional80
HP:0001256HP:0001256Intellectual disability, mild0THG1L CL E G H5497426053OMIM:618800SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0001256HP:0001256Intellectual disability, mild0THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040282 - Frequent5
HP:0001256HP:0001256Intellectual disability, mild0TIMM8A CL E G H167811817OMIM:304700Mohr-Tranebjaerg syndrome15
HP:0001256HP:0001256Intellectual disability, mild0TKT CL E G H708611834ORPHA:488618Transketolase deficiencyHP:0040282 - Frequent4
HP:0001256HP:0001256Intellectual disability, mild0TMEM63C CL E G H5715623787OMIM:619966
HP:0001256HP:0001256Intellectual disability, mild0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0001256HP:0001256Intellectual disability, mild0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040281 - Very frequent8
HP:0001256HP:0001256Intellectual disability, mild0TRNL1 CL E G H45677490ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040283 - Occasional
HP:0001256HP:0001256Intellectual disability, mild0TRNL2 CL E G H45687491ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040283 - Occasional
HP:0001256HP:0001256Intellectual disability, mild0TRNN CL E G H45707493ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040283 - Occasional
HP:0001256HP:0001256Intellectual disability, mild0TRNS1 CL E G H45747497ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040283 - Occasional
HP:0001256HP:0001256Intellectual disability, mild0TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional39
HP:0001256HP:0001256Intellectual disability, mild0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040283 - Occasional2
HP:0001256HP:0001256Intellectual disability, mild0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional7128
HP:0001256HP:0001256Intellectual disability, mild0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040282 - Frequent278
HP:0001256HP:0001256Intellectual disability, mild0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0001256HP:0001256Intellectual disability, mild0UPF3B CL E G H6510920439OMIM:300676MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS1433
HP:0001256HP:0001256Intellectual disability, mild0VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4HP:0040284 - Very rare
HP:0001256HP:0001256Intellectual disability, mild0VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0001256HP:0001256Intellectual disability, mild0VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0001256HP:0001256Intellectual disability, mild0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040281 - Very frequent20
HP:0001256HP:0001256Intellectual disability, mild0WDFY3 CL E G H2300120751OMIM:617520Microcephaly 18, primary, autosomal dominant.6
HP:0001256HP:0001256Intellectual disability, mild0WDR48 CL E G H5759930914ORPHA:401800Autosomal recessive spastic paraplegia type 60HP:0040282 - Frequent1
HP:0001256HP:0001256Intellectual disability, mild0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040282 - Frequent7
HP:0001256HP:0001256Intellectual disability, mild0ZC4H2 CL E G H5590624931ORPHA:3454Intellectual disability-developmental delay-contractures syndromeHP:0040281 - Very frequent19
HP:0001256HP:0001256Intellectual disability, mild0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0001256HP:0001256Intellectual disability, mild0ZFR CL E G H5166317277ORPHA:401840Autosomal recessive spastic paraplegia type 71HP:0040282 - Frequent1
HP:0001256HP:0001256Intellectual disability, mild0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001256HP:0001256Intellectual disability, mild0ZMYND11 CL E G H1077116966OMIM:616083Mental retardation, autosomal dominant 30.24
HP:0001256HP:0001256Intellectual disability, mild0ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional14
HP:0001256HP:0001256Intellectual disability, mild0ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4


Genes (336) :AASS ABCA2 ABCC9 ACAT1 ACOX2 ACP5 ACTB ACVR1 ADAMTS10 ADAR AFG3L2 AGL AKT1 ALAD ALG1 ALX4 AMER1 ANK3 ANO10 AP3B1 APC APC2 ARID1B ARPC4 ARVCF ARX ATL1 ATP13A2 ATP2A2 ATP6 ATP6AP1 B4GALNT1 BCOR BIN1 BLM BMPR1A BPTF BRAF BRF1 BRWD3 BSCL2 C12ORF57 CA8 CABP4 CAMTA1 CARS1 CDH11 CDK6 CDKL5 CEP57 CHRNA2 CHRNA4 CHRNA7 CHRNB2 CLCN4 COG1 COG5 COMT CPLX1 CRBN CRH CSTB CTDP1 CTNNB1 CUL3 CWF19L1 DAG1 DARS1 DCAF17 DCC DCDC2 DEPDC5 DLAT DLK1 DMD DNAJC12 DNAJC21 DNAJC3 DNAL4 DNMT3A DONSON DPYD DSTYK DYM DYRK1A EDC3 EMC10 EP300 ERCC4 ERCC6 ERCC8 ERMARD EXOSC2 EXT2 EZH2 FAT4 FBN1 FGD1 FGF14 FGFR2 FIBP FKRP FLCN FLNA FMR1 FOXP1 FREM1 FZD4 GABBR2 GALT GATA4 GBA2 GDI1 GLB1 GLI3 GLRA2 GMPPB GNE GNPTG GORAB GP1BB GPAA1 GPSM2 GRIA3 GRIN1 GTPBP3 H19 HCN4 HDAC6 HEATR3 HEPACAM HINT1 HIRA HMGA2 HMGCL HPD HPRT1 HSD17B4 IFT140 IGF1 IGF2 INPP5E ITPR1 JAG1 JAG2 JMJD1C KANSL1 KCNC3 KCNJ8 KCNQ1OT1 KCNT1 KDM6A KIF11 KIF1C KLF13 KMT2B KMT2D L1CAM LEMD3 LRP5 LTBP2 MAGEL2 MAN1B1 MAN2B1 MAP3K7 MARS1 MARS2 MASP1 MCM3AP MECOM MECP2 MEG3 METTL23 MGP MIA3 MID1 MLC1 MSMO1 MSTO1 MTHFD1 MTRFR MTSS2 MYCN NAGA NARS2 NDN NDP NF1 NFE2L2 NFIX NGF NKX2-1 NLGN4X NONO NR4A2 NSD1 NSDHL NTN1 NTNG1 NTRK1 NUP62 OCA2 ORC1 PAFAH1B1 PCDH19 PCNA PDSS1 PEX10 PEX11B PGAP1 PGAP2 PHF8 PIEZO2 PIK3CA PITRM1 PLP1 PNPLA2 PNPLA6 POGZ POLA1 POLR3A POLR3B POMGNT1 POMK POMT1 POMT2 POU3F4 POU4F1 PQBP1 PRMT7 PRPS1 PRRT2 PSMB8 PSMD12 PTEN PTPN11 PYCR1 RAB39B RAB3GAP2 RAD51 RAF1 RAI1 RARS1 RBPJ RCBTB1 RNF135 RNU4ATAC RPS6KA3 RREB1 RSPRY1 RTL1 RTN4IP1 RUBCN RYR1 SARDH SBDS SCN8A SCYL1 SDCCAG8 SEC24C SELENOI SETBP1 SETD1B SETD2 SFXN4 SH2B1 SHH SIN3A SIN3B SKIC2 SKIC3 SLC12A6 SLC16A2 SLC18A2 SLC25A24 SLC25A4 SLC29A3 SLC2A1 SLC35A3 SMARCA2 SMC1A SMS SNRPN SOX11 SOX3 SPART SPEG SPG11 SPRED2 SPTBN2 SRCAP SRP54 SRPX2 SRY STAC3 SUFU SYN1 TAC3 TAF13 TBC1D24 TBC1D2B TBX1 TCF20 TFAP2A TFAP2B TH THG1L THOC2 TIMM8A TKT TMEM63C TRIM37 TRIO TRNL1 TRNL2 TRNN TRNS1 TSPAN12 TSPOAP1 TTN UBE3A UFD1 UPF3B VPS13D VPS16 VRK1 WAC WDFY3 WDR48 YY1 ZC4H2 ZFR ZMYM2 ZMYND11 ZNF408 ZNF462

Diseases (302) :OMIM:238700 ORPHA:3124 OMIM:618808 OMIM:239850 ORPHA:1517 ORPHA:134 OMIM:617308 OMIM:607944 OMIM:607371 OMIM:135100 ORPHA:3449 OMIM:277600 ORPHA:225154 ORPHA:313772 ORPHA:366 OMIM:615109 ORPHA:100924 ORPHA:79327 ORPHA:228390 OMIM:300373 ORPHA:356996 ORPHA:284289 OMIM:608233 ORPHA:261584 ORPHA:821 ORPHA:251056 OMIM:620141 ORPHA:567 ORPHA:94083 OMIM:182600 OMIM:606693 OMIM:124200 OMIM:300972 OMIM:609195 OMIM:300166 ORPHA:169186 OMIM:255200 OMIM:210900 ORPHA:79076 ORPHA:529962 ORPHA:500 ORPHA:444072 OMIM:300659 OMIM:269700 OMIM:218340 OMIM:613227 ORPHA:98784 OMIM:614756 ORPHA:314647 OMIM:618891 OMIM:211380 OMIM:616080 ORPHA:3095 OMIM:614114 OMIM:612001 OMIM:300114 ORPHA:263508 ORPHA:263487 ORPHA:352582 OMIM:607417 OMIM:254800 ORPHA:48431 ORPHA:891 OMIM:619239 OMIM:616127 ORPHA:280333 OMIM:615281 ORPHA:3464 ORPHA:238722 OMIM:157600 OMIM:617394 OMIM:245348 ORPHA:254534 OMIM:310200 OMIM:617384 OMIM:260400 ORPHA:445062 ORPHA:404443 OMIM:617604 ORPHA:293948 OMIM:270750 ORPHA:239 ORPHA:268261 OMIM:616460 OMIM:619264 OMIM:613684 OMIM:610965 ORPHA:90324 ORPHA:75857 OMIM:617763 ORPHA:466926 OMIM:277590 OMIM:616006 OMIM:608328 OMIM:305400 ORPHA:98764 ORPHA:168624 OMIM:617107 ORPHA:370959 OMIM:610883 OMIM:300049 ORPHA:90650 OMIM:311300 ORPHA:261483 ORPHA:391372 OMIM:608980 ORPHA:79239 ORPHA:251071 ORPHA:352641 OMIM:300849 OMIM:230650 ORPHA:380 OMIM:175700 OMIM:301076 OMIM:615352 ORPHA:3166 OMIM:269921 OMIM:252605 ORPHA:2078 ORPHA:529665 OMIM:604213 ORPHA:364028 ORPHA:208447 ORPHA:444013 ORPHA:2128 OMIM:619521 OMIM:300863 ORPHA:163966 OMIM:620072 OMIM:604004 ORPHA:324442 ORPHA:94063 ORPHA:20 OMIM:276710 ORPHA:510 OMIM:233400 OMIM:266920 ORPHA:73272 ORPHA:75858 OMIM:117360 OMIM:118450 OMIM:619566 ORPHA:363958 ORPHA:363965 ORPHA:98768 OMIM:147920 OMIM:152950 ORPHA:397946 OMIM:617284 ORPHA:306617 OMIM:259770 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 ORPHA:397941 ORPHA:309288 ORPHA:309282 OMIM:617137 ORPHA:401835 ORPHA:314603 OMIM:257920 OMIM:618124 OMIM:616738 OMIM:300055 OMIM:615942 ORPHA:85202 OMIM:245150 OMIM:619269 OMIM:300000 OMIM:616834 ORPHA:502423 OMIM:617675 OMIM:617780 ORPHA:320375 OMIM:620086 OMIM:164280 ORPHA:79280 OMIM:609242 OMIM:616239 OMIM:162200 OMIM:617744 ORPHA:420179 ORPHA:64752 OMIM:608654 ORPHA:209905 OMIM:300495 ORPHA:466791 OMIM:619911 OMIM:308050 OMIM:224690 ORPHA:95232 ORPHA:101039 ORPHA:438134 OMIM:614651 ORPHA:247815 OMIM:614920 ORPHA:401820 OMIM:614207 OMIM:300263 ORPHA:85287 OMIM:114300 OMIM:615108 OMIM:619405 ORPHA:280219 OMIM:312920 ORPHA:98908 OMIM:215470 ORPHA:468678 ORPHA:163976 ORPHA:447896 OMIM:614381 ORPHA:1435 ORPHA:93945 ORPHA:93950 ORPHA:464288 ORPHA:1187 ORPHA:98811 OMIM:256040 OMIM:158350 OMIM:151100 OMIM:311510 ORPHA:401830 ORPHA:1713 ORPHA:438114 OMIM:614814 OMIM:617175 ORPHA:137634 OMIM:226960 OMIM:616651 OMIM:300844 ORPHA:457395 OMIM:616732 OMIM:615705 ORPHA:3129 OMIM:614306 ORPHA:466794 OMIM:616719 OMIM:613615 ORPHA:506353 OMIM:618768 ORPHA:436151 OMIM:619000 OMIM:615578 ORPHA:261197 OMIM:147250 ORPHA:500166 OMIM:613406 ORPHA:84064 OMIM:218000 ORPHA:59 OMIM:618049 ORPHA:2095 OMIM:615418 ORPHA:168569 ORPHA:370943 ORPHA:2728 ORPHA:3063 ORPHA:177907 OMIM:615866 OMIM:300123 OMIM:275900 ORPHA:2822 OMIM:619745 ORPHA:352403 ORPHA:2044 OMIM:300643 ORPHA:1772 ORPHA:168572 OMIM:617757 OMIM:300115 OMIM:614839 OMIM:617432 ORPHA:397973 OMIM:619323 OMIM:618430 OMIM:113620 OMIM:169100 ORPHA:101150 OMIM:618800 ORPHA:457240 OMIM:304700 ORPHA:488618 OMIM:619966 OMIM:253250 ORPHA:476126 ORPHA:663 ORPHA:411511 OMIM:300676 OMIM:607317 OMIM:619291 OMIM:607596 ORPHA:466950 OMIM:617520 ORPHA:401800 ORPHA:506358 ORPHA:3454 OMIM:314580 ORPHA:401840 OMIM:619522 OMIM:616083 OMIM:618619
 

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