Human Phenotype Ontology 
Grandparent Node:
expand
Neurodevelopmental abnormality (HP:0012759)help
Parent Node:
expand
Intellectual disability (HP:0001249)help
..Starting node
..expand
Intellectual disability, severe (HP:0010864)help
Term ID: 10864
Name: Intellectual disability, severe
Synonym: Early and severe mental retardation; Intellectual disability, severe; Mental retardation, severe; Severe mental retardation
Definition: Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Comments:
Reference: HP:0010864
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandIntellectual disability, borderline (HP:0006889) help
..expandIntellectual disability, mild (HP:0001256) help
..expandIntellectual disability, moderate (HP:0002342) help
..expandIntellectual disability, profound (HP:0002187) help
..expandIntellectual disability, progressive (HP:0006887) 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:0010864HP:0010864Intellectual disability, severe0ABCC8 CL E G H683359ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional245
HP:0010864HP:0010864Intellectual disability, severe0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040284 - Very rare91
HP:0010864HP:0010864Intellectual disability, severe0ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0010864HP:0010864Intellectual disability, severe0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0010864HP:0010864Intellectual disability, severe0ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiencyHP:0040281 - Very frequent120
HP:0010864HP:0010864Intellectual disability, severe0ACSL4 CL E G H21823571ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040281 - Very frequent19
HP:0010864HP:0010864Intellectual disability, severe0ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects2
HP:0010864HP:0010864Intellectual disability, severe0ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0010864HP:0010864Intellectual disability, severe0ADGRG1 CL E G H92894512ORPHA:101070Bilateral frontoparietal polymicrogyriaHP:0040282 - Frequent88
HP:0010864HP:0010864Intellectual disability, severe0AHSG CL E G H197349OMIM:203650Alopecia-Mental retardation syndrome 1.5
HP:0010864HP:0010864Intellectual disability, severe0AKT3 CL E G H10000393ORPHA:99802HemimegalencephalyHP:0040283 - Occasional19
HP:0010864HP:0010864Intellectual disability, severe0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 36.96
HP:0010864HP:0010864Intellectual disability, severe0ALG14 CL E G H19985728287OMIM:619031INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF12
HP:0010864HP:0010864Intellectual disability, severe0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0010864HP:0010864Intellectual disability, severe0AMMECR1 CL E G H9949467ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040281 - Very frequent2
HP:0010864HP:0010864Intellectual disability, severe0ANKLE2 CL E G H2314129101ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent3
HP:0010864HP:0010864Intellectual disability, severe0AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome.13
HP:0010864HP:0010864Intellectual disability, severe0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040281 - Very frequent49
HP:0010864HP:0010864Intellectual disability, severe0AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessive.49
HP:0010864HP:0010864Intellectual disability, severe0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040281 - Very frequent48
HP:0010864HP:0010864Intellectual disability, severe0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive.48
HP:0010864HP:0010864Intellectual disability, severe0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040281 - Very frequent41
HP:0010864HP:0010864Intellectual disability, severe0AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive.41
HP:0010864HP:0010864Intellectual disability, severe0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040281 - Very frequent18
HP:0010864HP:0010864Intellectual disability, severe0AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive.18
HP:0010864HP:0010864Intellectual disability, severe0APC2 CL E G H1029724036OMIM:618677CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM101
HP:0010864HP:0010864Intellectual disability, severe0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040283 - Occasional1
HP:0010864HP:0010864Intellectual disability, severe0ARFGEF2 CL E G H1056415853OMIM:608097Periventricular heterotopia with microcephaly, autosomal recessive.179
HP:0010864HP:0010864Intellectual disability, severe0ARG1 CL E G H383663ORPHA:90ArgininemiaHP:0040281 - Very frequent31
HP:0010864HP:0010864Intellectual disability, severe0ARHGEF9 CL E G H2322914561OMIM:300607Epileptic encephalopathy, early infantile, 8.45
HP:0010864HP:0010864Intellectual disability, severe0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0010864HP:0010864Intellectual disability, severe0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0010864HP:0010864Intellectual disability, severe0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0010864HP:0010864Intellectual disability, severe0ARX CL E G H17030218060ORPHA:2508Corpus callosum agenesis-abnormal genitalia syndromeHP:0040281 - Very frequent166
HP:0010864HP:0010864Intellectual disability, severe0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia.166
HP:0010864HP:0010864Intellectual disability, severe0ARX CL E G H17030218060OMIM:300419Mental retardation, X-linked, with or without seizures, arx-related166
HP:0010864HP:0010864Intellectual disability, severe0ASPM CL E G H25926619048ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent512
HP:0010864HP:0010864Intellectual disability, severe0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0010864HP:0010864Intellectual disability, severe0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040282 - Frequent49
HP:0010864HP:0010864Intellectual disability, severe0ATIC CL E G H471794ORPHA:250977AICA-ribosiduriaHP:0040281 - Very frequent4
HP:0010864HP:0010864Intellectual disability, severe0ATP6 CL E G H45087414ORPHA:644NARP syndromeHP:0040282 - Frequent
HP:0010864HP:0010864Intellectual disability, severe0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0010864HP:0010864Intellectual disability, severe0BCAP31 CL E G H1013416695OMIM:300475Deafness, dystonia, and cerebral hypomyelination.8
HP:0010864HP:0010864Intellectual disability, severe0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0010864HP:0010864Intellectual disability, severe0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome17
HP:0010864HP:0010864Intellectual disability, severe0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0010864HP:0010864Intellectual disability, severe0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040283 - Occasional7
HP:0010864HP:0010864Intellectual disability, severe0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV.27
HP:0010864HP:0010864Intellectual disability, severe0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0010864HP:0010864Intellectual disability, severe0CACNA1D CL E G H7761391ORPHA:369929Primary hyperaldosteronism-seizures-neurological abnormalities syndromeHP:0040282 - Frequent51
HP:0010864HP:0010864Intellectual disability, severe0CAMK2A CL E G H8151460OMIM:618095Mental retardation, autosomal recessive 63.1
HP:0010864HP:0010864Intellectual disability, severe0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 591
HP:0010864HP:0010864Intellectual disability, severe0CC2D1A CL E G H5486230237OMIM:608443Mental retardation, autosomal recessive 357
HP:0010864HP:0010864Intellectual disability, severe0CDC40 CL E G H5136217350OMIM:619302PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0010864HP:0010864Intellectual disability, severe0CDK5RAP2 CL E G H5575518672ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent181
HP:0010864HP:0010864Intellectual disability, severe0CDK6 CL E G H10211777ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent6
HP:0010864HP:0010864Intellectual disability, severe0CENPJ CL E G H5583517272ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent161
HP:0010864HP:0010864Intellectual disability, severe0CEP135 CL E G H966229086ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent38
HP:0010864HP:0010864Intellectual disability, severe0CEP135 CL E G H966229086OMIM:614673Microcephaly 8, primary, autosomal recessive.38
HP:0010864HP:0010864Intellectual disability, severe0CEP152 CL E G H2299529298ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent146
HP:0010864HP:0010864Intellectual disability, severe0CEP63 CL E G H8025425815ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent31
HP:0010864HP:0010864Intellectual disability, severe0CEP85L CL E G H38711921638ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome1
HP:0010864HP:0010864Intellectual disability, severe0CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0010864HP:0010864Intellectual disability, severe0CIT CL E G H111131985ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent15
HP:0010864HP:0010864Intellectual disability, severe0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040282 - Frequent45
HP:0010864HP:0010864Intellectual disability, severe0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0010864HP:0010864Intellectual disability, severe0COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040282 - Frequent79
HP:0010864HP:0010864Intellectual disability, severe0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0010864HP:0010864Intellectual disability, severe0COPB2 CL E G H92762232ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent
HP:0010864HP:0010864Intellectual disability, severe0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent104
HP:0010864HP:0010864Intellectual disability, severe0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent1
HP:0010864HP:0010864Intellectual disability, severe0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome.1
HP:0010864HP:0010864Intellectual disability, severe0CRBN CL E G H5118530185OMIM:607417Mental retardation, autosomal recessive 2.19
HP:0010864HP:0010864Intellectual disability, severe0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0010864HP:0010864Intellectual disability, severe0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome.2
HP:0010864HP:0010864Intellectual disability, severe0CTNNA2 CL E G H14962510OMIM:618174Cortical dysplasia, complex, with other brain malformations 9.2
HP:0010864HP:0010864Intellectual disability, severe0CTNND2 CL E G H15012516ORPHA:281Monosomy 5pHP:0040281 - Very frequent15
HP:0010864HP:0010864Intellectual disability, severe0CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10.159
HP:0010864HP:0010864Intellectual disability, severe0CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0010864HP:0010864Intellectual disability, severe0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040281 - Very frequent38
HP:0010864HP:0010864Intellectual disability, severe0CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional2
HP:0010864HP:0010864Intellectual disability, severe0CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional24
HP:0010864HP:0010864Intellectual disability, severe0DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16HP:0040282 - Frequent108
HP:0010864HP:0010864Intellectual disability, severe0DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophyHP:0040282 - Frequent108
HP:0010864HP:0010864Intellectual disability, severe0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional27
HP:0010864HP:0010864Intellectual disability, severe0DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiencyHP:0040282 - Frequent82
HP:0010864HP:0010864Intellectual disability, severe0DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1.HP:0003577 - Congenital onset152
HP:0010864HP:0010864Intellectual disability, severe0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndromeHP:0040283 - Occasional44
HP:0010864HP:0010864Intellectual disability, severe0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040282 - Frequent38
HP:0010864HP:0010864Intellectual disability, severe0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0010864HP:0010864Intellectual disability, severe0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0010864HP:0010864Intellectual disability, severe0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040282 - Frequent65
HP:0010864HP:0010864Intellectual disability, severe0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0010864HP:0010864Intellectual disability, severe0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0010864HP:0010864Intellectual disability, severe0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent33
HP:0010864HP:0010864Intellectual disability, severe0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 38.60
HP:0010864HP:0010864Intellectual disability, severe0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome.223
HP:0010864HP:0010864Intellectual disability, severe0EIF2S3 CL E G H19683267ORPHA:85282MEHMO syndromeHP:0040281 - Very frequent8
HP:0010864HP:0010864Intellectual disability, severe0EML1 CL E G H20093330OMIM:600348Band heterotopia.3
HP:0010864HP:0010864Intellectual disability, severe0EPB41L1 CL E G H20363378OMIM:614257MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD1129
HP:0010864HP:0010864Intellectual disability, severe0ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndromeHP:0040281 - Very frequent18
HP:0010864HP:0010864Intellectual disability, severe0EXT2 CL E G H21323513ORPHA:466926Seizures-scoliosis-macrocephaly syndromeHP:0040283 - Occasional102
HP:0010864HP:0010864Intellectual disability, severe0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional114
HP:0010864HP:0010864Intellectual disability, severe0FCSK CL E G H19725829500OMIM:618324Congenital disorder of glycosylation with defective fucosylation 2
HP:0010864HP:0010864Intellectual disability, severe0FGFR3 CL E G H22613690ORPHA:85165Severe achondroplasia-developmental delay-acanthosis nigricans syndromeHP:0040281 - Very frequent145
HP:0010864HP:0010864Intellectual disability, severe0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome.
HP:0010864HP:0010864Intellectual disability, severe0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional157
HP:0010864HP:0010864Intellectual disability, severe0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0010864HP:0010864Intellectual disability, severe0FKTN CL E G H22183622ORPHA:272Congenital muscular dystrophy, Fukuyama typeHP:0040281 - Very frequent184
HP:0010864HP:0010864Intellectual disability, severe0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0010864HP:0010864Intellectual disability, severe0FOXE1 CL E G H23043806ORPHA:95713AthyreosisHP:0040282 - Frequent9
HP:0010864HP:0010864Intellectual disability, severe0FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletionHP:0040281 - Very frequent177
HP:0010864HP:0010864Intellectual disability, severe0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0010864HP:0010864Intellectual disability, severe0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0010864HP:0010864Intellectual disability, severe0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent61
HP:0010864HP:0010864Intellectual disability, severe0FRMD4A CL E G H5569125491ORPHA:466688Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndromeHP:0040282 - Frequent1
HP:0010864HP:0010864Intellectual disability, severe0FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 374
HP:0010864HP:0010864Intellectual disability, severe0FTCD CL E G H108413974ORPHA:51208Formiminoglutamic aciduriaHP:0040283 - Occasional65
HP:0010864HP:0010864Intellectual disability, severe0FUCA1 CL E G H25174006ORPHA:349FucosidosisHP:0040281 - Very frequent43
HP:0010864HP:0010864Intellectual disability, severe0GABRA5 CL E G H25584079OMIM:618559DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0010864HP:0010864Intellectual disability, severe0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0010864HP:0010864Intellectual disability, severe0GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 291
HP:0010864HP:0010864Intellectual disability, severe0GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiencyHP:0040282 - Frequent91
HP:0010864HP:0010864Intellectual disability, severe0GATAD2B CL E G H5745930778OMIM:615074Mental retardation, autosomal dominant 1833
HP:0010864HP:0010864Intellectual disability, severe0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040282 - Frequent33
HP:0010864HP:0010864Intellectual disability, severe0GCK CL E G H26454195ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional237
HP:0010864HP:0010864Intellectual disability, severe0GDI1 CL E G H26644226OMIM:300849MENTAL RETARDATION, X-LINKED 41; MRX4120
HP:0010864HP:0010864Intellectual disability, severe0GLI3 CL E G H27374319ORPHA:36Acrocallosal syndromeHP:0040281 - Very frequent270
HP:0010864HP:0010864Intellectual disability, severe0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional34
HP:0010864HP:0010864Intellectual disability, severe0GMPPB CL E G H2992522932OMIM:615350MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14.34
HP:0010864HP:0010864Intellectual disability, severe0GNB5 CL E G H106814401ORPHA:542306GNB5-related intellectual disability-cardiac arrhythmia syndromeHP:0040282 - Frequent7
HP:0010864HP:0010864Intellectual disability, severe0GOT2 CL E G H28064433OMIM:618721DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0010864HP:0010864Intellectual disability, severe0GRIA1 CL E G H28904571OMIM:6199313
HP:0010864HP:0010864Intellectual disability, severe0GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 94.30
HP:0010864HP:0010864Intellectual disability, severe0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0010864HP:0010864Intellectual disability, severe0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040282 - Frequent108
HP:0010864HP:0010864Intellectual disability, severe0GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.108
HP:0010864HP:0010864Intellectual disability, severe0GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive.108
HP:0010864HP:0010864Intellectual disability, severe0GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationHP:0040282 - Frequent434
HP:0010864HP:0010864Intellectual disability, severe0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent37
HP:0010864HP:0010864Intellectual disability, severe0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040281 - Very frequent16
HP:0010864HP:0010864Intellectual disability, severe0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040283 - Occasional35
HP:0010864HP:0010864Intellectual disability, severe0HNMT CL E G H31765028OMIM:616739Mental retardation, autosomal recessive 51.3
HP:0010864HP:0010864Intellectual disability, severe0HNRNPH1 CL E G H31875041OMIM:620083
HP:0010864HP:0010864Intellectual disability, severe0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040282 - Frequent8
HP:0010864HP:0010864Intellectual disability, severe0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040282 - Frequent8
HP:0010864HP:0010864Intellectual disability, severe0HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndromeHP:0040281 - Very frequent39
HP:0010864HP:0010864Intellectual disability, severe0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040283 - Occasional19
HP:0010864HP:0010864Intellectual disability, severe0HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome.12
HP:0010864HP:0010864Intellectual disability, severe0INPP5E CL E G H5662321474ORPHA:75858MORM syndromeHP:0040282 - Frequent111
HP:0010864HP:0010864Intellectual disability, severe0INS CL E G H36306081ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional62
HP:0010864HP:0010864Intellectual disability, severe0IQSEC1 CL E G H992229112OMIM:618687INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0010864HP:0010864Intellectual disability, severe0IQSEC2 CL E G H2309629059ORPHA:397933Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndromeHP:0040282 - Frequent119
HP:0010864HP:0010864Intellectual disability, severe0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0010864HP:0010864Intellectual disability, severe0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0010864HP:0010864Intellectual disability, severe0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0010864HP:0010864Intellectual disability, severe0KAT6A CL E G H799413013ORPHA:457193Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndromeHP:0040281 - Very frequent34
HP:0010864HP:0010864Intellectual disability, severe0KAT6B CL E G H2352217582OMIM:603736Ohdo syndrome, sbbys variant.141
HP:0010864HP:0010864Intellectual disability, severe0KCNC2 CL E G H37476234OMIM:619913
HP:0010864HP:0010864Intellectual disability, severe0KCNE5 CL E G H236306241ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040281 - Very frequent5
HP:0010864HP:0010864Intellectual disability, severe0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040282 - Frequent13
HP:0010864HP:0010864Intellectual disability, severe0KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome.13
HP:0010864HP:0010864Intellectual disability, severe0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1HP:0040283 - Occasional13
HP:0010864HP:0010864Intellectual disability, severe0KCNJ11 CL E G H37676257ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional127
HP:0010864HP:0010864Intellectual disability, severe0KCNJ6 CL E G H37636267OMIM:614098Keppen-Lubinsky syndrome.3
HP:0010864HP:0010864Intellectual disability, severe0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0010864HP:0010864Intellectual disability, severe0KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutationHP:0040281 - Very frequent81
HP:0010864HP:0010864Intellectual disability, severe0KIF14 CL E G H992819181ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent9
HP:0010864HP:0010864Intellectual disability, severe0KIF1A CL E G H547888ORPHA:2836PEHO syndromeHP:0040281 - Very frequent276
HP:0010864HP:0010864Intellectual disability, severe0KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0010864HP:0010864Intellectual disability, severe0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome.167
HP:0010864HP:0010864Intellectual disability, severe0KIF7 CL E G H37465430497ORPHA:36Acrocallosal syndromeHP:0040281 - Very frequent167
HP:0010864HP:0010864Intellectual disability, severe0KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0010864HP:0010864Intellectual disability, severe0KMT2B CL E G H975715840OMIM:61993411
HP:0010864HP:0010864Intellectual disability, severe0KNL1 CL E G H5708224054ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent112
HP:0010864HP:0010864Intellectual disability, severe0L1CAM CL E G H38976470ORPHA:2182Hydrocephalus with stenosis of the aqueduct of SylviusHP:0040281 - Very frequent134
HP:0010864HP:0010864Intellectual disability, severe0L2HGDH CL E G H7994420499ORPHA:79314L-2-hydroxyglutaric aciduriaHP:0040281 - Very frequent34
HP:0010864HP:0010864Intellectual disability, severe0L2HGDH CL E G H7994420499OMIM:236792L-2-Hydroxyglutaric aciduria.34
HP:0010864HP:0010864Intellectual disability, severe0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional136
HP:0010864HP:0010864Intellectual disability, severe0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0010864HP:0010864Intellectual disability, severe0LARP7 CL E G H5157424912ORPHA:319671Alazami syndromeHP:0040281 - Very frequent16
HP:0010864HP:0010864Intellectual disability, severe0LARP7 CL E G H5157424912OMIM:615071Alazami syndrome.16
HP:0010864HP:0010864Intellectual disability, severe0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome.2
HP:0010864HP:0010864Intellectual disability, severe0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0010864HP:0010864Intellectual disability, severe0LINGO1 CL E G H8489421205OMIM:618103Mental retardation, autosomal recessive 64
HP:0010864HP:0010864Intellectual disability, severe0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent21
HP:0010864HP:0010864Intellectual disability, severe0LMAN2L CL E G H8156219263OMIM:616887Mental retardation, autosomal recessive 521
HP:0010864HP:0010864Intellectual disability, severe0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040281 - Very frequent165
HP:0010864HP:0010864Intellectual disability, severe0MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformation2
HP:0010864HP:0010864Intellectual disability, severe0MACF1 CL E G H2349913664ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome2
HP:0010864HP:0010864Intellectual disability, severe0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040283 - Occasional93
HP:0010864HP:0010864Intellectual disability, severe0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040281 - Very frequent252
HP:0010864HP:0010864Intellectual disability, severe0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0010864HP:0010864Intellectual disability, severe0MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndromeHP:0040281 - Very frequent22
HP:0010864HP:0010864Intellectual disability, severe0MCM7 CL E G H41766950ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent
HP:0010864HP:0010864Intellectual disability, severe0MCPH1 CL E G H796486954ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent155
HP:0010864HP:0010864Intellectual disability, severe0MECP2 CL E G H42046990OMIM:300673Encephalopathy, neonatal severe, due to mecp2 mutations.950
HP:0010864HP:0010864Intellectual disability, severe0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0010864HP:0010864Intellectual disability, severe0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0010864HP:0010864Intellectual disability, severe0MECP2 CL E G H42046990ORPHA:1762Proximal Xq28 duplication syndromeHP:0040281 - Very frequent950
HP:0010864HP:0010864Intellectual disability, severe0MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndromeHP:0040282 - Frequent950
HP:0010864HP:0010864Intellectual disability, severe0MEF2C CL E G H42086996ORPHA:2283845q14.3 microdeletion syndromeHP:0040281 - Very frequent132
HP:0010864HP:0010864Intellectual disability, severe0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20.132
HP:0010864HP:0010864Intellectual disability, severe0METTL5 CL E G H2908125006ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent
HP:0010864HP:0010864Intellectual disability, severe0METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0010864HP:0010864Intellectual disability, severe0MFSD2A CL E G H8487925897ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent5
HP:0010864HP:0010864Intellectual disability, severe0MFSD2A CL E G H8487925897OMIM:616486Microcephaly 15, primary, autosomal recessive.5
HP:0010864HP:0010864Intellectual disability, severe0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0010864HP:0010864Intellectual disability, severe0MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0010864HP:0010864Intellectual disability, severe0MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent29
HP:0010864HP:0010864Intellectual disability, severe0MTOR CL E G H24753942ORPHA:99802HemimegalencephalyHP:0040283 - Occasional68
HP:0010864HP:0010864Intellectual disability, severe0NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataractHP:0040282 - Frequent1
HP:0010864HP:0010864Intellectual disability, severe0NAGA CL E G H46687631ORPHA:79279Alpha-N-acetylgalactosaminidase deficiency type 1HP:0040281 - Very frequent47
HP:0010864HP:0010864Intellectual disability, severe0NAGA CL E G H46687631OMIM:609241Schindler disease, type I.47
HP:0010864HP:0010864Intellectual disability, severe0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040281 - Very frequent48
HP:0010864HP:0010864Intellectual disability, severe0NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type.8
HP:0010864HP:0010864Intellectual disability, severe0NCAPD3 CL E G H2331028952ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent1
HP:0010864HP:0010864Intellectual disability, severe0NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY.96
HP:0010864HP:0010864Intellectual disability, severe0NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent91
HP:0010864HP:0010864Intellectual disability, severe0NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent7
HP:0010864HP:0010864Intellectual disability, severe0NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent3
HP:0010864HP:0010864Intellectual disability, severe0NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent19
HP:0010864HP:0010864Intellectual disability, severe0NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent4
HP:0010864HP:0010864Intellectual disability, severe0NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0010864HP:0010864Intellectual disability, severe0NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent26
HP:0010864HP:0010864Intellectual disability, severe0NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent34
HP:0010864HP:0010864Intellectual disability, severe0NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent39
HP:0010864HP:0010864Intellectual disability, severe0NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent81
HP:0010864HP:0010864Intellectual disability, severe0NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent65
HP:0010864HP:0010864Intellectual disability, severe0NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent22
HP:0010864HP:0010864Intellectual disability, severe0NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0010864HP:0010864Intellectual disability, severe0NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent38
HP:0010864HP:0010864Intellectual disability, severe0NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent42
HP:0010864HP:0010864Intellectual disability, severe0NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent74
HP:0010864HP:0010864Intellectual disability, severe0NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0010864HP:0010864Intellectual disability, severe0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent
HP:0010864HP:0010864Intellectual disability, severe0NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 2HP:0040284 - Very rare43
HP:0010864HP:0010864Intellectual disability, severe0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040283 - Occasional40
HP:0010864HP:0010864Intellectual disability, severe0NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndromeHP:0040283 - Occasional40
HP:0010864HP:0010864Intellectual disability, severe0NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber typeHP:0040282 - Frequent55
HP:0010864HP:0010864Intellectual disability, severe0NIN CL E G H5119914906OMIM:614851Seckel syndrome 7.55
HP:0010864HP:0010864Intellectual disability, severe0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent494
HP:0010864HP:0010864Intellectual disability, severe0NKX2-1 CL E G H708011825ORPHA:95713AthyreosisHP:0040282 - Frequent51
HP:0010864HP:0010864Intellectual disability, severe0NKX2-5 CL E G H14822488ORPHA:95713AthyreosisHP:0040282 - Frequent90
HP:0010864HP:0010864Intellectual disability, severe0NKX2-5 CL E G H14822488OMIM:225250Hypothyroidism, congenital, nongoitrous, 5.90
HP:0010864HP:0010864Intellectual disability, severe0NKX2-5 CL E G H14822488ORPHA:95712Thyroid ectopiaHP:0040282 - Frequent90
HP:0010864HP:0010864Intellectual disability, severe0NRXN1 CL E G H93788008OMIM:614325Pitt-Hopkins-Like syndrome 2.470
HP:0010864HP:0010864Intellectual disability, severe0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040283 - Occasional544
HP:0010864HP:0010864Intellectual disability, severe0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent118
HP:0010864HP:0010864Intellectual disability, severe0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome.118
HP:0010864HP:0010864Intellectual disability, severe0NTRK2 CL E G H49158032OMIM:617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE588
HP:0010864HP:0010864Intellectual disability, severe0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent121
HP:0010864HP:0010864Intellectual disability, severe0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2.201
HP:0010864HP:0010864Intellectual disability, severe0OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndromeHP:0040282 - Frequent55
HP:0010864HP:0010864Intellectual disability, severe0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040281 - Very frequent4
HP:0010864HP:0010864Intellectual disability, severe0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0010864HP:0010864Intellectual disability, severe0PAFAH1B1 CL E G H50488574ORPHA:95232Lissencephaly due to LIS1 mutationHP:0040282 - Frequent231
HP:0010864HP:0010864Intellectual disability, severe0PAH CL E G H50538582ORPHA:79254Classic phenylketonuriaHP:0040281 - Very frequent641
HP:0010864HP:0010864Intellectual disability, severe0PAK1 CL E G H50588590OMIM:618158Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0010864HP:0010864Intellectual disability, severe0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0010864HP:0010864Intellectual disability, severe0PAX8 CL E G H78498622ORPHA:95713AthyreosisHP:0040282 - Frequent63
HP:0010864HP:0010864Intellectual disability, severe0PAX8 CL E G H78498622ORPHA:95712Thyroid ectopiaHP:0040282 - Frequent63
HP:0010864HP:0010864Intellectual disability, severe0PAX8 CL E G H78498622ORPHA:95720Thyroid hypoplasiaHP:0040282 - Frequent63
HP:0010864HP:0010864Intellectual disability, severe0PCDH19 CL E G H5752614270ORPHA:101039Female restricted epilepsy with intellectual disabilityHP:0040283 - Occasional225
HP:0010864HP:0010864Intellectual disability, severe0PCNA CL E G H51118729ORPHA:438134PCNA-related progressive neurodegenerative photosensitivity syndromeHP:0040283 - Occasional1
HP:0010864HP:0010864Intellectual disability, severe0PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent88
HP:0010864HP:0010864Intellectual disability, severe0PDHX CL E G H805021350ORPHA:255182Pyruvate dehydrogenase E3-binding protein deficiencyHP:0040283 - Occasional98
HP:0010864HP:0010864Intellectual disability, severe0PDX1 CL E G H36516107ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional30
HP:0010864HP:0010864Intellectual disability, severe0PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent6
HP:0010864HP:0010864Intellectual disability, severe0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0010864HP:0010864Intellectual disability, severe0PEX5 CL E G H58309719OMIM:616716RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP599
HP:0010864HP:0010864Intellectual disability, severe0PEX7 CL E G H51918860ORPHA:773Refsum diseaseHP:0040282 - Frequent72
HP:0010864HP:0010864Intellectual disability, severe0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0010864HP:0010864Intellectual disability, severe0PGAP2 CL E G H2731517893OMIM:614207Hyperphosphatasia with mental retardation syndrome 3.8
HP:0010864HP:0010864Intellectual disability, severe0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0010864HP:0010864Intellectual disability, severe0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0010864HP:0010864Intellectual disability, severe0PHC1 CL E G H19113182ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent16
HP:0010864HP:0010864Intellectual disability, severe0PHF6 CL E G H8429518145OMIM:301900Borjeson-Forssman-Lehmann syndrome.29
HP:0010864HP:0010864Intellectual disability, severe0PHYH CL E G H52648940ORPHA:773Refsum diseaseHP:0040282 - Frequent45
HP:0010864HP:0010864Intellectual disability, severe0PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0010864HP:0010864Intellectual disability, severe0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent7
HP:0010864HP:0010864Intellectual disability, severe0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0010864HP:0010864Intellectual disability, severe0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0010864HP:0010864Intellectual disability, severe0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040281 - Very frequent12
HP:0010864HP:0010864Intellectual disability, severe0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0010864HP:0010864Intellectual disability, severe0PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation.57
HP:0010864HP:0010864Intellectual disability, severe0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0010864HP:0010864Intellectual disability, severe0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0010864HP:0010864Intellectual disability, severe0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0010864HP:0010864Intellectual disability, severe0PIK3CA CL E G H52908975ORPHA:99802HemimegalencephalyHP:0040283 - Occasional162
HP:0010864HP:0010864Intellectual disability, severe0PLEKHG2 CL E G H6485729515OMIM:616763Leukodystrophy and acquired microcephaly with or without dystonia.3
HP:0010864HP:0010864Intellectual disability, severe0PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal formHP:0040281 - Very frequent60
HP:0010864HP:0010864Intellectual disability, severe0PLP1 CL E G H53549086ORPHA:280224Pelizaeus-Merzbacher disease, transitional formHP:0040282 - Frequent60
HP:0010864HP:0010864Intellectual disability, severe0PNKP CL E G H112849154OMIM:613402Microcephaly, seizures, and developmental delay244
HP:0010864HP:0010864Intellectual disability, severe0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040283 - Occasional35
HP:0010864HP:0010864Intellectual disability, severe0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.180
HP:0010864HP:0010864Intellectual disability, severe0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional213
HP:0010864HP:0010864Intellectual disability, severe0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0010864HP:0010864Intellectual disability, severe0POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1.213
HP:0010864HP:0010864Intellectual disability, severe0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional221
HP:0010864HP:0010864Intellectual disability, severe0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0010864HP:0010864Intellectual disability, severe0POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2.221
HP:0010864HP:0010864Intellectual disability, severe0PPIL1 CL E G H516459260OMIM:619301PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0010864HP:0010864Intellectual disability, severe0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 22
HP:0010864HP:0010864Intellectual disability, severe0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0010864HP:0010864Intellectual disability, severe0PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 3613
HP:0010864HP:0010864Intellectual disability, severe0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040282 - Frequent10
HP:0010864HP:0010864Intellectual disability, severe0PQBP1 CL E G H100849330ORPHA:93950X-linked intellectual disability, Sutherland-Haan typeHP:0040282 - Frequent28
HP:0010864HP:0010864Intellectual disability, severe0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040282 - Frequent6
HP:0010864HP:0010864Intellectual disability, severe0PRSS12 CL E G H84929477OMIM:249500Mental retardation, autosomal recessive 173
HP:0010864HP:0010864Intellectual disability, severe0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0010864HP:0010864Intellectual disability, severe0PSMB1 CL E G H56899537OMIM:6200382
HP:0010864HP:0010864Intellectual disability, severe0PSMC1 CL E G H57009547OMIM:6200711
HP:0010864HP:0010864Intellectual disability, severe0PTEN CL E G H57289588ORPHA:101070Bilateral frontoparietal polymicrogyriaHP:0040282 - Frequent948
HP:0010864HP:0010864Intellectual disability, severe0PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletionHP:0040282 - Frequent53
HP:0010864HP:0010864Intellectual disability, severe0PUS3 CL E G H8348025461OMIM:617051MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT551
HP:0010864HP:0010864Intellectual disability, severe0PYCR2 CL E G H2992030262ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent11
HP:0010864HP:0010864Intellectual disability, severe0RAB18 CL E G H2293114244ORPHA:2510Micro syndromeHP:0040281 - Very frequent85
HP:0010864HP:0010864Intellectual disability, severe0RAB3GAP1 CL E G H2293017063OMIM:619420MARTSOLF SYNDROME 2; MARTS290
HP:0010864HP:0010864Intellectual disability, severe0RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndromeHP:0040281 - Very frequent90
HP:0010864HP:0010864Intellectual disability, severe0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1.135
HP:0010864HP:0010864Intellectual disability, severe0RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndromeHP:0040281 - Very frequent135
HP:0010864HP:0010864Intellectual disability, severe0RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2.135
HP:0010864HP:0010864Intellectual disability, severe0RAB5IF CL E G H5596915870OMIM:616994
HP:0010864HP:0010864Intellectual disability, severe0RAC3 CL E G H58819803OMIM:618577NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF1
HP:0010864HP:0010864Intellectual disability, severe0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent25
HP:0010864HP:0010864Intellectual disability, severe0RFT1 CL E G H9186930220OMIM:612015Congenital disorder of glycosylation, type IN.92
HP:0010864HP:0010864Intellectual disability, severe0RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0010864HP:0010864Intellectual disability, severe0ROGDI CL E G H7964129478ORPHA:1946Amelocerebrohypohidrotic syndromeHP:0040281 - Very frequent57
HP:0010864HP:0010864Intellectual disability, severe0ROGDI CL E G H7964129478OMIM:226750Kohlschutter-Tonz syndrome.57
HP:0010864HP:0010864Intellectual disability, severe0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040281 - Very frequent10
HP:0010864HP:0010864Intellectual disability, severe0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040282 - Frequent113
HP:0010864HP:0010864Intellectual disability, severe0SASS6 CL E G H16378625403ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent4
HP:0010864HP:0010864Intellectual disability, severe0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0010864HP:0010864Intellectual disability, severe0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040281 - Very frequent34
HP:0010864HP:0010864Intellectual disability, severe0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040282 - Frequent34
HP:0010864HP:0010864Intellectual disability, severe0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040282 - Frequent34
HP:0010864HP:0010864Intellectual disability, severe0SCN1A CL E G H632310585OMIM:607208Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)1053
HP:0010864HP:0010864Intellectual disability, severe0SCN8A CL E G H633410596OMIM:614558Epileptic encephalopathy, early infantile, 13357
HP:0010864HP:0010864Intellectual disability, severe0SDHA CL E G H638910680ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent304
HP:0010864HP:0010864Intellectual disability, severe0SEMA5A CL E G H903710736ORPHA:281Monosomy 5pHP:0040281 - Very frequent6
HP:0010864HP:0010864Intellectual disability, severe0SEMA6B CL E G H1050110739OMIM:618876EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0010864HP:0010864Intellectual disability, severe0SETBP1 CL E G H2604015573ORPHA:436151Intellectual disability-expressive aphasia-facial dysmorphism syndromeHP:0040283 - Occasional143
HP:0010864HP:0010864Intellectual disability, severe0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040283 - Occasional60
HP:0010864HP:0010864Intellectual disability, severe0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0010864HP:0010864Intellectual disability, severe0SHROOM4 CL E G H5747729215ORPHA:85288X-linked intellectual disability, Stocco Dos Santos typeHP:0040282 - Frequent42
HP:0010864HP:0010864Intellectual disability, severe0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0010864HP:0010864Intellectual disability, severe0SLC12A2 CL E G H655810911OMIM:619080KILQUIST SYNDROME; KILQS2
HP:0010864HP:0010864Intellectual disability, severe0SLC13A5 CL E G H28411123089ORPHA:1946Amelocerebrohypohidrotic syndromeHP:0040281 - Very frequent73
HP:0010864HP:0010864Intellectual disability, severe0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040283 - Occasional57
HP:0010864HP:0010864Intellectual disability, severe0SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome.57
HP:0010864HP:0010864Intellectual disability, severe0SLC19A3 CL E G H8070416266ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent110
HP:0010864HP:0010864Intellectual disability, severe0SLC1A2 CL E G H650610940OMIM:617105Epileptic encephalopathy, early infantile, 413
HP:0010864HP:0010864Intellectual disability, severe0SLC26A4 CL E G H51728818ORPHA:95713AthyreosisHP:0040282 - Frequent274
HP:0010864HP:0010864Intellectual disability, severe0SLC26A4 CL E G H51728818ORPHA:95720Thyroid hypoplasiaHP:0040282 - Frequent274
HP:0010864HP:0010864Intellectual disability, severe0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040282 - Frequent27
HP:0010864HP:0010864Intellectual disability, severe0SLC35A3 CL E G H2344311023ORPHA:370943Autism spectrum disorder-epilepsy-arthrogryposis syndromeHP:0040283 - Occasional2
HP:0010864HP:0010864Intellectual disability, severe0SLC35C1 CL E G H5534320197OMIM:266265Congenital disorder of glycosylation, type IIc.71
HP:0010864HP:0010864Intellectual disability, severe0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040282 - Frequent71
HP:0010864HP:0010864Intellectual disability, severe0SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 48.12
HP:0010864HP:0010864Intellectual disability, severe0SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeHP:0040282 - Frequent12
HP:0010864HP:0010864Intellectual disability, severe0SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type.93
HP:0010864HP:0010864Intellectual disability, severe0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome.146
HP:0010864HP:0010864Intellectual disability, severe0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent617
HP:0010864HP:0010864Intellectual disability, severe0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent87
HP:0010864HP:0010864Intellectual disability, severe0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent1
HP:0010864HP:0010864Intellectual disability, severe0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0010864HP:0010864Intellectual disability, severe0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent47
HP:0010864HP:0010864Intellectual disability, severe0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent135
HP:0010864HP:0010864Intellectual disability, severe0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent91
HP:0010864HP:0010864Intellectual disability, severe0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040282 - Frequent15
HP:0010864HP:0010864Intellectual disability, severe0SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome.94
HP:0010864HP:0010864Intellectual disability, severe0SNRPN CL E G H663811164OMIM:105830Angelman syndrome.37
HP:0010864HP:0010864Intellectual disability, severe0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0010864HP:0010864Intellectual disability, severe0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040281 - Very frequent14
HP:0010864HP:0010864Intellectual disability, severe0SOBP CL E G H5508429256OMIM:613671Mental retardation, anterior maxillary protrusion, and strabismus.29
HP:0010864HP:0010864Intellectual disability, severe0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040282 - Frequent12
HP:0010864HP:0010864Intellectual disability, severe0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0010864HP:0010864Intellectual disability, severe0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent14
HP:0010864HP:0010864Intellectual disability, severe0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0010864HP:0010864Intellectual disability, severe0SPATA5 CL E G H16637818119OMIM:616577Epilepsy, hearing loss, and mental retardation syndrome.19
HP:0010864HP:0010864Intellectual disability, severe0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040282 - Frequent19
HP:0010864HP:0010864Intellectual disability, severe0SPTAN1 CL E G H670911273OMIM:613477Epileptic encephalopathy, early infantile, 5.416
HP:0010864HP:0010864Intellectual disability, severe0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0010864HP:0010864Intellectual disability, severe0SRD5A3 CL E G H7964425812OMIM:612713Kahrizi syndrome.80
HP:0010864HP:0010864Intellectual disability, severe0STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeHP:0040283 - Occasional9
HP:0010864HP:0010864Intellectual disability, severe0STAT3 CL E G H677411364ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional110
HP:0010864HP:0010864Intellectual disability, severe0STIL CL E G H649110879ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent99
HP:0010864HP:0010864Intellectual disability, severe0STIL CL E G H649110879OMIM:612703Microcephaly 7, primary, autosomal recessive99
HP:0010864HP:0010864Intellectual disability, severe0STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040281 - Very frequent237
HP:0010864HP:0010864Intellectual disability, severe0STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4.237
HP:0010864HP:0010864Intellectual disability, severe0SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0010864HP:0010864Intellectual disability, severe0SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA40
HP:0010864HP:0010864Intellectual disability, severe0SURF1 CL E G H683411474ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent73
HP:0010864HP:0010864Intellectual disability, severe0SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040282 - Frequent108
HP:0010864HP:0010864Intellectual disability, severe0TACO1 CL E G H5120424316ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent23
HP:0010864HP:0010864Intellectual disability, severe0TAF13 CL E G H688411546ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent2
HP:0010864HP:0010864Intellectual disability, severe0TBC1D20 CL E G H12863716133ORPHA:2510Micro syndromeHP:0040281 - Very frequent15
HP:0010864HP:0010864Intellectual disability, severe0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0010864HP:0010864Intellectual disability, severe0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0010864HP:0010864Intellectual disability, severe0TBR1 CL E G H1071611590OMIM:606053Intellectual developmental disorder with autism and speech delay1
HP:0010864HP:0010864Intellectual disability, severe0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0010864HP:0010864Intellectual disability, severe0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040281 - Very frequent12
HP:0010864HP:0010864Intellectual disability, severe0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0010864HP:0010864Intellectual disability, severe0THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040283 - Occasional5
HP:0010864HP:0010864Intellectual disability, severe0THOC6 CL E G H7922828369ORPHA:363444THOC6-related developmental delay-microcephaly-facial dysmorphism syndromeHP:0040282 - Frequent1
HP:0010864HP:0010864Intellectual disability, severe0TIMM50 CL E G H9260923656ORPHA:5052163-methylglutaconic aciduria type 9HP:0040281 - Very frequent1
HP:0010864HP:0010864Intellectual disability, severe0TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX.1
HP:0010864HP:0010864Intellectual disability, severe0TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI.4
HP:0010864HP:0010864Intellectual disability, severe0TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 3HP:0040282 - Frequent33
HP:0010864HP:0010864Intellectual disability, severe0TMEM237 CL E G H6506214432OMIM:614424Joubert syndrome 14.82
HP:0010864HP:0010864Intellectual disability, severe0TMX2 CL E G H5107530739OMIM:618730NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS2
HP:0010864HP:0010864Intellectual disability, severe0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0010864HP:0010864Intellectual disability, severe0TRAPPC10 CL E G H710911868OMIM:6200271
HP:0010864HP:0010864Intellectual disability, severe0TRAPPC10 CL E G H710911868ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent1
HP:0010864HP:0010864Intellectual disability, severe0TRAPPC14 CL E G H5526225604ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent
HP:0010864HP:0010864Intellectual disability, severe0TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy.
HP:0010864HP:0010864Intellectual disability, severe0TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeHP:0040281 - Very frequent158
HP:0010864HP:0010864Intellectual disability, severe0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0010864HP:0010864Intellectual disability, severe0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0010864HP:0010864Intellectual disability, severe0TSHB CL E G H725212372OMIM:275100Hypothyroidism, congenital, nongoitrous, 4.9
HP:0010864HP:0010864Intellectual disability, severe0TSHR CL E G H725312373ORPHA:95713AthyreosisHP:0040282 - Frequent97
HP:0010864HP:0010864Intellectual disability, severe0TSHR CL E G H725312373ORPHA:95720Thyroid hypoplasiaHP:0040282 - Frequent97
HP:0010864HP:0010864Intellectual disability, severe0TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 3911
HP:0010864HP:0010864Intellectual disability, severe0TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeHP:0040281 - Very frequent11
HP:0010864HP:0010864Intellectual disability, severe0TUBA1A CL E G H784620766OMIM:611603Lissencephaly 3.106
HP:0010864HP:0010864Intellectual disability, severe0TUSC3 CL E G H799130242OMIM:611093Mental retardation, autosomal recessive 776
HP:0010864HP:0010864Intellectual disability, severe0UBA5 CL E G H7987623230OMIM:617132Epileptic encephalopathy, early infantile, 44.13
HP:0010864HP:0010864Intellectual disability, severe0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040282 - Frequent7
HP:0010864HP:0010864Intellectual disability, severe0UBE3A CL E G H733712496OMIM:105830Angelman syndrome.278
HP:0010864HP:0010864Intellectual disability, severe0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent278
HP:0010864HP:0010864Intellectual disability, severe0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0010864HP:0010864Intellectual disability, severe0UBE4A CL E G H935412499OMIM:619639NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS1
HP:0010864HP:0010864Intellectual disability, severe0UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040282 - Frequent1
HP:0010864HP:0010864Intellectual disability, severe0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040281 - Very frequent23
HP:0010864HP:0010864Intellectual disability, severe0UQCRQ CL E G H2708929594OMIM:615159Mitochondrial complex III deficiency, nuclear type 4.34
HP:0010864HP:0010864Intellectual disability, severe0VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0010864HP:0010864Intellectual disability, severe0WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0010864HP:0010864Intellectual disability, severe0WDR62 CL E G H28440324502ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent224
HP:0010864HP:0010864Intellectual disability, severe0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224
HP:0010864HP:0010864Intellectual disability, severe0WDR81 CL E G H12499726600OMIM:610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2.27
HP:0010864HP:0010864Intellectual disability, severe0WIPI2 CL E G H2610032225OMIM:618453Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0010864HP:0010864Intellectual disability, severe0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0010864HP:0010864Intellectual disability, severe0ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 2216
HP:0010864HP:0010864Intellectual disability, severe0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0010864HP:0010864Intellectual disability, severe0ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68
HP:0010864HP:0010864Intellectual disability, severe0ZNHIT3 CL E G H932612309ORPHA:2836PEHO syndromeHP:0040281 - Very frequent1


Genes (368) :ABCC8 ACAT1 ACO2 ACOX1 ACSL4 ACTL6B ADCY5 ADGRG1 AHSG AKT3 ALG13 ALG14 ALG2 AMMECR1 ANKLE2 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 APC2 ARFGEF2 ARG1 ARHGEF9 ARID1A ARID1B ARID2 ARX ASPM ASXL1 ASXL3 ATIC ATP6 ATRX BCAP31 BCAS3 BCORL1 BRD4 BRF1 C2CD3 CA2 CACNA1D CAMK2A CAMK2G CC2D1A CDC40 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63 CEP85L CHRNA7 CIT CLCN4 CNTNAP2 COG5 COPB1 COPB2 COX15 CPLX1 CRBN CTBP1 CTNNA2 CTNND2 CTSD CUL3 CUL4B CYB5A CYB5R3 DAG1 DCHS1 DLAT DMPK DNMT3A DPAGT1 DPF2 DPYSL5 DYM DYNC1I2 DYRK1A ECHS1 EEF1A2 EHMT1 EIF2S3 EML1 EPB41L1 ERLIN2 EXT2 FAT4 FCSK FGFR3 FGFRL1 FKRP FKTN FOXE1 FOXG1 FOXP1 FOXRED1 FRMD4A FRRS1L FTCD FUCA1 GABRA5 GALNT2 GAMT GATAD2B GCK GDI1 GLI3 GMPPB GNB5 GOT2 GRIA1 GRIA3 GRIN1 GRIN2A HDAC8 HERC1 HMGCL HNMT HNRNPH1 HNRNPK HNRNPU HSD17B10 HTT INPP5E INS IQSEC1 IQSEC2 KANSL1 KAT5 KAT6A KAT6B KCNC2 KCNE5 KCNH1 KCNJ11 KCNJ6 KDM5C KIF14 KIF1A KIF5C KIF7 KLF13 KMT2B KNL1 L1CAM L2HGDH LARGE1 LARP7 LETM1 LINGO1 LIPT1 LMAN2L LMX1B MACF1 MAN1B1 MBD5 MBTPS2 MCM7 MCPH1 MECP2 MEF2C METTL5 MFSD2A MGAT2 MPDU1 MTFMT MTOR NACC1 NAGA NALCN NANS NCAPD3 NDE1 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NELFA NEU1 NFIX NIN NIPBL NKX2-1 NKX2-5 NRXN1 NSD1 NSD2 NTRK2 OCA2 OFD1 OPHN1 OTUD6B PAFAH1B1 PAH PAK1 PAK3 PAX8 PCDH19 PCNA PDHA1 PDHX PDX1 PET100 PEX1 PEX5 PEX7 PGAP1 PGAP2 PGAP3 PHC1 PHF6 PHYH PIGF PIGG PIGL PIGO PIGT PIGU PIGV PIGW PIGY PIK3CA PLEKHG2 PLP1 PNKP POGZ POMGNT1 POMT1 POMT2 PPIL1 PPP1R15B PPP2R1A PPP2R5D PQBP1 PRMT7 PRSS12 PRUNE1 PSMB1 PSMC1 PTEN PURA PUS3 PYCR2 RAB18 RAB3GAP1 RAB3GAP2 RAB5IF RAC3 RAD21 RFT1 RNF2 ROGDI RPL10 RTTN SASS6 SATB1 SATB2 SCN1A SCN8A SDHA SEMA5A SEMA6B SETBP1 SETD2 SHMT2 SHROOM4 SIN3A SLC12A2 SLC13A5 SLC16A2 SLC19A3 SLC1A2 SLC26A4 SLC35A2 SLC35A3 SLC35C1 SLC6A17 SLC9A6 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMOC1 SNAP29 SNRPN SNX14 SOBP SON SOX11 SOX4 SPATA5 SPTAN1 SPTBN4 SRD5A3 STAG1 STAT3 STIL STXBP1 SUCLG1 SUOX SURF1 SYNGAP1 TACO1 TAF13 TBC1D20 TBC1D23 TBR1 TCF4 TELO2 TFE3 THOC2 THOC6 TIMM50 TMEM107 TMEM231 TMEM237 TMX2 TOR1A TRAPPC10 TRAPPC14 TRAPPC6B TRAPPC9 TRIM8 TRMT10A TSHB TSHR TTI2 TUBA1A TUSC3 UBA5 UBE2A UBE3A UBE3B UBE4A UBTF UNC80 UQCRQ VPS4A WASF1 WDR62 WDR81 WIPI2 YY1 ZBTB18 ZEB2 ZNF407 ZNHIT3

Diseases (318) :ORPHA:99885 ORPHA:134 OMIM:614559 OMIM:264470 ORPHA:2971 ORPHA:86818 OMIM:618470 OMIM:619651 ORPHA:101070 OMIM:203650 ORPHA:99802 OMIM:300884 OMIM:619031 OMIM:607906 ORPHA:2512 OMIM:304340 ORPHA:280763 OMIM:614066 OMIM:613744 OMIM:612936 OMIM:614067 OMIM:618677 ORPHA:821 OMIM:608097 ORPHA:90 OMIM:300607 ORPHA:1465 ORPHA:2508 OMIM:300004 OMIM:300419 ORPHA:97297 ORPHA:352577 ORPHA:250977 ORPHA:644 OMIM:309580 OMIM:300475 OMIM:619641 OMIM:301029 ORPHA:199 ORPHA:444072 OMIM:615948 ORPHA:2785 ORPHA:369929 OMIM:618095 OMIM:618522 OMIM:608443 OMIM:619302 OMIM:614673 ORPHA:572013 OMIM:612001 ORPHA:485350 ORPHA:163681 ORPHA:263487 OMIM:619255 ORPHA:255241 ORPHA:280 OMIM:194190 OMIM:607417 OMIM:618174 ORPHA:281 OMIM:610127 OMIM:619239 ORPHA:85293 ORPHA:621 ORPHA:280333 ORPHA:370997 ORPHA:314679 ORPHA:79244 OMIM:160900 ORPHA:404443 ORPHA:86309 OMIM:619435 ORPHA:239 OMIM:618492 OMIM:614104 OMIM:616393 OMIM:610253 ORPHA:85282 OMIM:600348 OMIM:614257 ORPHA:280384 ORPHA:466926 OMIM:618324 ORPHA:85165 ORPHA:370968 OMIM:236670 ORPHA:272 ORPHA:95713 ORPHA:261144 OMIM:613454 ORPHA:391372 ORPHA:466688 OMIM:616981 ORPHA:51208 ORPHA:349 OMIM:618559 OMIM:618885 OMIM:612736 ORPHA:382 OMIM:615074 ORPHA:363686 OMIM:300849 ORPHA:36 OMIM:615350 ORPHA:542306 OMIM:618721 OMIM:619931 OMIM:300699 ORPHA:364028 ORPHA:208447 OMIM:614254 OMIM:617820 ORPHA:289266 ORPHA:457359 ORPHA:20 OMIM:616739 OMIM:620083 ORPHA:352665 ORPHA:453504 ORPHA:238769 ORPHA:391428 OMIM:617435 ORPHA:75858 OMIM:618687 ORPHA:397933 ORPHA:363958 ORPHA:363965 OMIM:619103 ORPHA:457193 OMIM:603736 OMIM:619913 ORPHA:420561 OMIM:611816 OMIM:135500 OMIM:614098 OMIM:300534 ORPHA:85279 ORPHA:2836 OMIM:615282 OMIM:200990 OMIM:619934 ORPHA:2182 ORPHA:79314 OMIM:236792 ORPHA:319671 OMIM:615071 OMIM:618103 OMIM:616887 ORPHA:495818 OMIM:618325 ORPHA:397941 ORPHA:228402 OMIM:156200 ORPHA:85284 OMIM:300673 OMIM:300260 OMIM:300055 ORPHA:1762 ORPHA:3077 ORPHA:228384 OMIM:613443 OMIM:618665 OMIM:616486 OMIM:212066 ORPHA:79323 ORPHA:500545 ORPHA:79279 OMIM:609241 ORPHA:371364 OMIM:610442 OMIM:605013 ORPHA:93399 ORPHA:447980 ORPHA:420179 ORPHA:319675 OMIM:614851 OMIM:225250 ORPHA:95712 OMIM:614325 OMIM:617830 ORPHA:98794 OMIM:300209 ORPHA:137831 ORPHA:505237 OMIM:617452 ORPHA:95232 ORPHA:79254 OMIM:618158 OMIM:300558 ORPHA:95720 ORPHA:101039 ORPHA:438134 ORPHA:255182 OMIM:214100 OMIM:616716 ORPHA:773 OMIM:615802 OMIM:614207 ORPHA:247262 OMIM:301900 OMIM:619356 ORPHA:369837 OMIM:618590 OMIM:239300 OMIM:616763 ORPHA:280210 ORPHA:280224 OMIM:613402 ORPHA:468678 OMIM:253280 OMIM:613155 OMIM:613150 OMIM:619301 OMIM:616817 ORPHA:391408 OMIM:616362 ORPHA:457279 ORPHA:93950 ORPHA:464288 OMIM:249500 ORPHA:544469 OMIM:620038 OMIM:620071 ORPHA:314655 OMIM:617051 ORPHA:2510 OMIM:619420 OMIM:212720 OMIM:614225 OMIM:616994 OMIM:618577 OMIM:612015 OMIM:619460 ORPHA:1946 OMIM:226750 ORPHA:459070 ORPHA:468631 OMIM:619229 ORPHA:251019 ORPHA:251028 ORPHA:576283 OMIM:607208 OMIM:614558 OMIM:618876 ORPHA:436151 OMIM:619121 ORPHA:85288 OMIM:613406 OMIM:619080 ORPHA:59 OMIM:300523 OMIM:617105 ORPHA:356961 ORPHA:370943 OMIM:266265 ORPHA:99843 OMIM:616269 ORPHA:457212 OMIM:300243 OMIM:601358 ORPHA:1106 OMIM:609528 OMIM:105830 ORPHA:177907 ORPHA:397709 OMIM:613671 ORPHA:500150 OMIM:617140 OMIM:616577 ORPHA:457351 OMIM:613477 OMIM:617519 OMIM:612713 ORPHA:502434 OMIM:612703 OMIM:612164 OMIM:245400 OMIM:272300 ORPHA:544254 OMIM:615663 OMIM:617695 OMIM:606053 OMIM:610954 ORPHA:488642 OMIM:301066 ORPHA:457240 ORPHA:363444 ORPHA:505216 OMIM:617698 OMIM:617563 ORPHA:2752 OMIM:614424 OMIM:618730 OMIM:618947 OMIM:620027 OMIM:617862 ORPHA:352530 OMIM:619428 OMIM:275100 OMIM:615541 ORPHA:391307 OMIM:611603 OMIM:611093 OMIM:617132 ORPHA:163956 OMIM:244450 OMIM:619639 ORPHA:500180 OMIM:615159 OMIM:619273 OMIM:618707 OMIM:604317 OMIM:610185 OMIM:618453 ORPHA:506358 OMIM:612337 OMIM:235730 OMIM:619557
 

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