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, moderate (HP:0002342)help
Term ID: 2342
Name: Intellectual disability, moderate
Synonym: IQ between 34 and 49; Mental retardation, moderate; Moderate mental deficiency; Moderate mental retardation
Definition: Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
Comments:
Reference: HP:0002342
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandIntellectual disability, borderline (HP:0006889) help
..expandIntellectual disability, mild (HP:0001256) 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:0002342HP:0002342Intellectual disability, moderate0ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0002342HP:0002342Intellectual disability, moderate0AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic.54
HP:0002342HP:0002342Intellectual disability, moderate0ALX4 CL E G H60529450ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndromeHP:0040281 - Very frequent132
HP:0002342HP:0002342Intellectual disability, moderate0ANK3 CL E G H288494ORPHA:356996ANK3-related intellectual disability-sleep disturbance syndromeHP:0040282 - Frequent176
HP:0002342HP:0002342Intellectual disability, moderate0ANK3 CL E G H288494OMIM:615493Mental retardation, autosomal recessive 37.176
HP:0002342HP:0002342Intellectual disability, moderate0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndromeHP:0040282 - Frequent102
HP:0002342HP:0002342Intellectual disability, moderate0AP1S2 CL E G H8905560ORPHA:85335Fried syndromeHP:0040281 - Very frequent13
HP:0002342HP:0002342Intellectual disability, moderate0APC CL E G H324583ORPHA:79665Gardner syndromeHP:0040284 - Very rare3179
HP:0002342HP:0002342Intellectual disability, moderate0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040283 - Occasional1
HP:0002342HP:0002342Intellectual disability, moderate0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0002342HP:0002342Intellectual disability, moderate0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0002342HP:0002342Intellectual disability, moderate0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0002342HP:0002342Intellectual disability, moderate0ARX CL E G H17030218060ORPHA:94083Partington syndromeHP:0040282 - Frequent166
HP:0002342HP:0002342Intellectual disability, moderate0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040283 - Occasional49
HP:0002342HP:0002342Intellectual disability, moderate0CACNG2 CL E G H103691406OMIM:614256Mental retardation, autosomal dominant 10.5
HP:0002342HP:0002342Intellectual disability, moderate0CAMKMT CL E G H7982326276ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent1
HP:0002342HP:0002342Intellectual disability, moderate0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia.118
HP:0002342HP:0002342Intellectual disability, moderate0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm typeHP:0040281 - Very frequent118
HP:0002342HP:0002342Intellectual disability, moderate0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent247
HP:0002342HP:0002342Intellectual disability, moderate0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040281 - Very frequent2
HP:0002342HP:0002342Intellectual disability, moderate0CDK5RAP2 CL E G H5575518672OMIM:604804Microcephaly 3, primary, autosomal recessive.181
HP:0002342HP:0002342Intellectual disability, moderate0CENPJ CL E G H5583517272OMIM:608393Microcephaly, primary autosomal recessive, 6.161
HP:0002342HP:0002342Intellectual disability, moderate0CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0002342HP:0002342Intellectual disability, moderate0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040282 - Frequent45
HP:0002342HP:0002342Intellectual disability, moderate0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0002342HP:0002342Intellectual disability, moderate0COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040283 - Occasional52
HP:0002342HP:0002342Intellectual disability, moderate0COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0002342HP:0002342Intellectual disability, moderate0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040283 - Occasional243
HP:0002342HP:0002342Intellectual disability, moderate0COQ4 CL E G H5111719693OMIM:616276Coenzyme Q10 deficiency, primary, 724
HP:0002342HP:0002342Intellectual disability, moderate0COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiencyHP:0040282 - Frequent136
HP:0002342HP:0002342Intellectual disability, moderate0CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional1
HP:0002342HP:0002342Intellectual disability, moderate0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040281 - Very frequent38
HP:0002342HP:0002342Intellectual disability, moderate0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040283 - Occasional4
HP:0002342HP:0002342Intellectual disability, moderate0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiencyHP:0040282 - Frequent9
HP:0002342HP:0002342Intellectual disability, moderate0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040282 - Frequent27
HP:0002342HP:0002342Intellectual disability, moderate0DMXL2 CL E G H233122938OMIM:616113Polyendocrine-Polyneuropathy syndrome.3
HP:0002342HP:0002342Intellectual disability, moderate0DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndromeHP:0040282 - Frequent3
HP:0002342HP:0002342Intellectual disability, moderate0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndromeHP:0040282 - Frequent44
HP:0002342HP:0002342Intellectual disability, moderate0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040282 - Frequent38
HP:0002342HP:0002342Intellectual disability, moderate0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0002342HP:0002342Intellectual disability, moderate0EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant.51
HP:0002342HP:0002342Intellectual disability, moderate0EGF CL E G H19503229OMIM:611718HYPOMAGNESEMIA 4, RENAL; HOMG473
HP:0002342HP:0002342Intellectual disability, moderate0ENTPD1 CL E G H9533363OMIM:615683Spastic paraplegia 64, autosomal recessive.3
HP:0002342HP:0002342Intellectual disability, moderate0EXT2 CL E G H21323513ORPHA:466926Seizures-scoliosis-macrocephaly syndromeHP:0040282 - Frequent102
HP:0002342HP:0002342Intellectual disability, moderate0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040282 - Frequent114
HP:0002342HP:0002342Intellectual disability, moderate0FBLN1 CL E G H21923600ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndromeHP:0040282 - Frequent12
HP:0002342HP:0002342Intellectual disability, moderate0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional175
HP:0002342HP:0002342Intellectual disability, moderate0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0002342HP:0002342Intellectual disability, moderate0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional145
HP:0002342HP:0002342Intellectual disability, moderate0FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndromeHP:0040282 - Frequent30
HP:0002342HP:0002342Intellectual disability, moderate0FMR1 CL E G H23323775ORPHA:908Fragile X syndromeHP:0040281 - Very frequent30
HP:0002342HP:0002342Intellectual disability, moderate0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0002342HP:0002342Intellectual disability, moderate0FTSJ1 CL E G H2414013254OMIM:309549Mental retardation, X-linked 913
HP:0002342HP:0002342Intellectual disability, moderate0GLUD1 CL E G H27464335ORPHA:35878Hyperinsulinism-hyperammonemia syndromeHP:0040282 - Frequent56
HP:0002342HP:0002342Intellectual disability, moderate0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040282 - Frequent30
HP:0002342HP:0002342Intellectual disability, moderate0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040283 - Occasional108
HP:0002342HP:0002342Intellectual disability, moderate0GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationHP:0040283 - Occasional434
HP:0002342HP:0002342Intellectual disability, moderate0GTF2E2 CL E G H29614651OMIM:616943Trichothiodystrophy 6, nonphotosensitive.2
HP:0002342HP:0002342Intellectual disability, moderate0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040283 - Occasional35
HP:0002342HP:0002342Intellectual disability, moderate0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040282 - Frequent8
HP:0002342HP:0002342Intellectual disability, moderate0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040282 - Frequent8
HP:0002342HP:0002342Intellectual disability, moderate0HPRT1 CL E G H32515157ORPHA:510Lesch-Nyhan syndromeHP:0040281 - Very frequent76
HP:0002342HP:0002342Intellectual disability, moderate0HYCC1 CL E G H8466824587ORPHA:85163Hypomyelination-congenital cataract syndromeHP:0040281 - Very frequent
HP:0002342HP:0002342Intellectual disability, moderate0IL1RAPL1 CL E G H111415996OMIM:300143Mental retardation, X-linked 2142
HP:0002342HP:0002342Intellectual disability, moderate0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent111
HP:0002342HP:0002342Intellectual disability, moderate0INPP5E CL E G H5662321474OMIM:610156Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome.111
HP:0002342HP:0002342Intellectual disability, moderate0INPP5E CL E G H5662321474ORPHA:75858MORM syndromeHP:0040282 - Frequent111
HP:0002342HP:0002342Intellectual disability, moderate0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040282 - Frequent283
HP:0002342HP:0002342Intellectual disability, moderate0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040282 - Frequent283
HP:0002342HP:0002342Intellectual disability, moderate0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 65.2
HP:0002342HP:0002342Intellectual disability, moderate0KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 10HP:0040283 - Occasional93
HP:0002342HP:0002342Intellectual disability, moderate0KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0002342HP:0002342Intellectual disability, moderate0L1CAM CL E G H38976470ORPHA:306617X-linked complicated spastic paraplegia type 1HP:0040282 - Frequent134
HP:0002342HP:0002342Intellectual disability, moderate0LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndromeHP:0040281 - Very frequent35
HP:0002342HP:0002342Intellectual disability, moderate0MAB21L2 CL E G H105866758OMIM:615877Microphthalmia/coloboma and skeletal dysplasia syndromeHP:0040283 - Occasional5
HP:0002342HP:0002342Intellectual disability, moderate0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040284 - Very rare63
HP:0002342HP:0002342Intellectual disability, moderate0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0002342HP:0002342Intellectual disability, moderate0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional63
HP:0002342HP:0002342Intellectual disability, moderate0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040283 - Occasional93
HP:0002342HP:0002342Intellectual disability, moderate0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0002342HP:0002342Intellectual disability, moderate0MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndromeHP:0040282 - Frequent950
HP:0002342HP:0002342Intellectual disability, moderate0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040282 - Frequent228
HP:0002342HP:0002342Intellectual disability, moderate0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040282 - Frequent74
HP:0002342HP:0002342Intellectual disability, moderate0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects74
HP:0002342HP:0002342Intellectual disability, moderate0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0002342HP:0002342Intellectual disability, moderate0NCAPD2 CL E G H991824305OMIM:617983Microcephaly 21, primary, autosomal recessive.
HP:0002342HP:0002342Intellectual disability, moderate0NCAPH CL E G H233971112OMIM:617985Microcephaly 23, primary, autosomal recessive.
HP:0002342HP:0002342Intellectual disability, moderate0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040284 - Very rare
HP:0002342HP:0002342Intellectual disability, moderate0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0002342HP:0002342Intellectual disability, moderate0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional
HP:0002342HP:0002342Intellectual disability, moderate0NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0002342HP:0002342Intellectual disability, moderate0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040282 - Frequent40
HP:0002342HP:0002342Intellectual disability, moderate0NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndromeHP:0040282 - Frequent40
HP:0002342HP:0002342Intellectual disability, moderate0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0002342HP:0002342Intellectual disability, moderate0NHS CL E G H48107820OMIM:302350Nance-Horan syndrome88
HP:0002342HP:0002342Intellectual disability, moderate0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040283 - Occasional544
HP:0002342HP:0002342Intellectual disability, moderate0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 584
HP:0002342HP:0002342Intellectual disability, moderate0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040284 - Very rare121
HP:0002342HP:0002342Intellectual disability, moderate0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0002342HP:0002342Intellectual disability, moderate0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional121
HP:0002342HP:0002342Intellectual disability, moderate0OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndromeHP:0040282 - Frequent55
HP:0002342HP:0002342Intellectual disability, moderate0PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0002342HP:0002342Intellectual disability, moderate0PCDH19 CL E G H5752614270ORPHA:101039Female restricted epilepsy with intellectual disabilityHP:0040283 - Occasional225
HP:0002342HP:0002342Intellectual disability, moderate0PDE2A CL E G H51388777OMIM:619150INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0002342HP:0002342Intellectual disability, moderate0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0002342HP:0002342Intellectual disability, moderate0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0002342HP:0002342Intellectual disability, moderate0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0002342HP:0002342Intellectual disability, moderate0PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040282 - Frequent15
HP:0002342HP:0002342Intellectual disability, moderate0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0002342HP:0002342Intellectual disability, moderate0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0002342HP:0002342Intellectual disability, moderate0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0002342HP:0002342Intellectual disability, moderate0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0002342HP:0002342Intellectual disability, moderate0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0002342HP:0002342Intellectual disability, moderate0PLP1 CL E G H53549086ORPHA:280234Null syndromeHP:0040283 - Occasional60
HP:0002342HP:0002342Intellectual disability, moderate0PLP1 CL E G H53549086ORPHA:280224Pelizaeus-Merzbacher disease, transitional formHP:0040282 - Frequent60
HP:0002342HP:0002342Intellectual disability, moderate0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0002342HP:0002342Intellectual disability, moderate0POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism67
HP:0002342HP:0002342Intellectual disability, moderate0PPM1B CL E G H54959276ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent
HP:0002342HP:0002342Intellectual disability, moderate0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040282 - Frequent10
HP:0002342HP:0002342Intellectual disability, moderate0PREPL CL E G H958130228ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent7
HP:0002342HP:0002342Intellectual disability, moderate0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040283 - Occasional6
HP:0002342HP:0002342Intellectual disability, moderate0PRPS1 CL E G H56319462ORPHA:1187Lethal ataxia with deafness and optic atrophyHP:0040282 - Frequent49
HP:0002342HP:0002342Intellectual disability, moderate0PSPH CL E G H57239577ORPHA:793503-phosphoserine phosphatase deficiency, infantile/juvenile formHP:0040282 - Frequent54
HP:0002342HP:0002342Intellectual disability, moderate0PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism.6
HP:0002342HP:0002342Intellectual disability, moderate0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040281 - Very frequent6
HP:0002342HP:0002342Intellectual disability, moderate0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040281 - Very frequent19
HP:0002342HP:0002342Intellectual disability, moderate0RBMX CL E G H273169910OMIM:300238MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS112
HP:0002342HP:0002342Intellectual disability, moderate0RDH11 CL E G H5110917964ORPHA:436245Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0002342HP:0002342Intellectual disability, moderate0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0002342HP:0002342Intellectual disability, moderate0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent167
HP:0002342HP:0002342Intellectual disability, moderate0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040283 - Occasional2
HP:0002342HP:0002342Intellectual disability, moderate0RTTN CL E G H2591418654OMIM:614833Microcephaly, short stature, and polymicrogyria with or without seizures113
HP:0002342HP:0002342Intellectual disability, moderate0SARS1 CL E G H630110537OMIM:617709Neurodevelopmental disorder with microcephaly, ataxia, and seizures.
HP:0002342HP:0002342Intellectual disability, moderate0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040282 - Frequent34
HP:0002342HP:0002342Intellectual disability, moderate0SCN1A CL E G H632310585OMIM:607208Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)1053
HP:0002342HP:0002342Intellectual disability, moderate0SETBP1 CL E G H2604015573ORPHA:436151Intellectual disability-expressive aphasia-facial dysmorphism syndromeHP:0040283 - Occasional143
HP:0002342HP:0002342Intellectual disability, moderate0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040283 - Occasional60
HP:0002342HP:0002342Intellectual disability, moderate0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome.53
HP:0002342HP:0002342Intellectual disability, moderate0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0002342HP:0002342Intellectual disability, moderate0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040283 - Occasional57
HP:0002342HP:0002342Intellectual disability, moderate0SLC35A3 CL E G H2344311023ORPHA:370943Autism spectrum disorder-epilepsy-arthrogryposis syndromeHP:0040283 - Occasional2
HP:0002342HP:0002342Intellectual disability, moderate0SLC3A1 CL E G H651911025ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent55
HP:0002342HP:0002342Intellectual disability, moderate0SLC45A1 CL E G H5065117939OMIM:617532Intellectual developmental disorder with neuropsychiatric features.2
HP:0002342HP:0002342Intellectual disability, moderate0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent617
HP:0002342HP:0002342Intellectual disability, moderate0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent87
HP:0002342HP:0002342Intellectual disability, moderate0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent1
HP:0002342HP:0002342Intellectual disability, moderate0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0002342HP:0002342Intellectual disability, moderate0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent47
HP:0002342HP:0002342Intellectual disability, moderate0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040282 - Frequent15
HP:0002342HP:0002342Intellectual disability, moderate0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040284 - Very rare37
HP:0002342HP:0002342Intellectual disability, moderate0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0002342HP:0002342Intellectual disability, moderate0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional37
HP:0002342HP:0002342Intellectual disability, moderate0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent14
HP:0002342HP:0002342Intellectual disability, moderate0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0002342HP:0002342Intellectual disability, moderate0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040282 - Frequent19
HP:0002342HP:0002342Intellectual disability, moderate0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040282 - Frequent138
HP:0002342HP:0002342Intellectual disability, moderate0STAG2 CL E G H1073511355ORPHA:521258Xq25 microduplication syndromeHP:0040282 - Frequent1
HP:0002342HP:0002342Intellectual disability, moderate0SYNGAP1 CL E G H883111497OMIM:612621Mental retardation, autosomal dominant 5108
HP:0002342HP:0002342Intellectual disability, moderate0SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040282 - Frequent108
HP:0002342HP:0002342Intellectual disability, moderate0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040282 - Frequent21
HP:0002342HP:0002342Intellectual disability, moderate0TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional271
HP:0002342HP:0002342Intellectual disability, moderate0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040283 - Occasional16
HP:0002342HP:0002342Intellectual disability, moderate0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040281 - Very frequent241
HP:0002342HP:0002342Intellectual disability, moderate0TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 35HP:0040283 - Occasional58
HP:0002342HP:0002342Intellectual disability, moderate0THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040282 - Frequent5
HP:0002342HP:0002342Intellectual disability, moderate0TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0002342HP:0002342Intellectual disability, moderate0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent166
HP:0002342HP:0002342Intellectual disability, moderate0TMEM70 CL E G H5496826050ORPHA:1194TMEM70-related mitochondrial encephalo-cardio-myopathyHP:0040281 - Very frequent63
HP:0002342HP:0002342Intellectual disability, moderate0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0002342HP:0002342Intellectual disability, moderate0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040283 - Occasional
HP:0002342HP:0002342Intellectual disability, moderate0TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 3911
HP:0002342HP:0002342Intellectual disability, moderate0TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0002342HP:0002342Intellectual disability, moderate0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional18
HP:0002342HP:0002342Intellectual disability, moderate0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18
HP:0002342HP:0002342Intellectual disability, moderate0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040283 - Occasional7
HP:0002342HP:0002342Intellectual disability, moderate0UROC1 CL E G H13166926444OMIM:276880Urocanase deficiency8
HP:0002342HP:0002342Intellectual disability, moderate0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040281 - Very frequent27
HP:0002342HP:0002342Intellectual disability, moderate0VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0002342HP:0002342Intellectual disability, moderate0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040282 - Frequent2
HP:0002342HP:0002342Intellectual disability, moderate0WDFY3 CL E G H2300120751OMIM:617520Microcephaly 18, primary, autosomal dominant.6
HP:0002342HP:0002342Intellectual disability, moderate0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224
HP:0002342HP:0002342Intellectual disability, moderate0XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDGHP:0040282 - Frequent14
HP:0002342HP:0002342Intellectual disability, moderate0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040282 - Frequent7
HP:0002342HP:0002342Intellectual disability, moderate0ZBTB11 CL E G H2710716740OMIM:618383Intellectual developmental disorder, autosomal recessive 69
HP:0002342HP:0002342Intellectual disability, moderate0ZNF711 CL E G H755213128OMIM:300803MENTAL RETARDATION, X-LINKED 97; MRX9734


Genes (159) :ADCY5 AKT1 ALX4 ANK3 ANKRD11 AP1S2 APC APC2 ARID1A ARID1B ARID2 ARX ASXL3 CACNG2 CAMKMT CASK CC2D2A CDH11 CDK5RAP2 CENPJ CHRNA7 CLCN4 CNTNAP2 COG1 COG5 COL1A2 COQ4 COQ8A CPLX1 CUL4B CWC27 CWF19L1 DCHS1 DMXL2 DNMT3A DPAGT1 DPF2 EBP EGF ENTPD1 EXT2 FAT4 FBLN1 FGFR2 FGFR3 FMR1 FOXP1 FTSJ1 GLUD1 GRIA3 GRIN1 GRIN2A GTF2E2 HMGCL HNRNPK HPRT1 HYCC1 IL1RAPL1 INPP5E KANSL1 KDM5B KIF5A KLF13 L1CAM LAMA1 MAB21L2 MAGEL2 MAN1B1 MECP2 MED12 MED13L MED25 NCAPD2 NCAPH NDN NDUFAF5 NFIX NHS NSD1 NSUN2 OCA2 OPHN1 PAX1 PCDH19 PDE2A PGAP1 PGAP2 PGAP3 PGM3 PIGL PIGO PIGV PIGW PIGY PLP1 POLR3A POLR3B PPM1B PPP2R5D PREPL PRMT7 PRPS1 PSPH PTDSS1 PTRH2 PUF60 RBMX RDH11 RNU4ATAC RPGRIP1L RSPRY1 RTTN SARS1 SATB2 SCN1A SETBP1 SETD2 SHANK3 SHMT2 SLC16A2 SLC35A3 SLC3A1 SLC45A1 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMOC1 SNRPN SOX11 SOX4 SPATA5 SRCAP STAG2 SYNGAP1 TAF1 TBC1D24 TBCD TCF4 TGM6 THOC2 TMEM67 TMEM70 TOR1A TRNE TTI2 TWIST1 UBE2A UROC1 USP9X VPS16 WARS2 WDFY3 WDR62 XYLT1 YY1 ZBTB11 ZNF711

Diseases (146) :OMIM:619651 OMIM:176920 ORPHA:228390 ORPHA:356996 OMIM:615493 ORPHA:261250 ORPHA:85335 ORPHA:79665 ORPHA:821 ORPHA:1465 ORPHA:94083 ORPHA:352577 OMIM:614256 ORPHA:163693 OMIM:300749 ORPHA:163937 ORPHA:1454 ORPHA:1299 OMIM:604804 OMIM:608393 OMIM:612001 ORPHA:485350 ORPHA:163681 ORPHA:263508 ORPHA:263487 ORPHA:230851 OMIM:616276 ORPHA:139485 ORPHA:352582 ORPHA:85293 ORPHA:166035 ORPHA:453521 ORPHA:314679 OMIM:616113 ORPHA:453533 ORPHA:404443 ORPHA:86309 OMIM:302960 OMIM:611718 OMIM:615683 ORPHA:466926 ORPHA:404451 ORPHA:794 OMIM:101400 OMIM:300624 ORPHA:908 ORPHA:391372 OMIM:309549 ORPHA:35878 ORPHA:364028 ORPHA:208447 ORPHA:289266 OMIM:616943 ORPHA:20 ORPHA:352665 ORPHA:453504 ORPHA:510 ORPHA:85163 OMIM:300143 OMIM:610156 ORPHA:75858 ORPHA:363958 ORPHA:363965 OMIM:618109 ORPHA:100991 ORPHA:306617 ORPHA:370022 OMIM:615877 ORPHA:98754 ORPHA:177901 ORPHA:177904 ORPHA:397941 OMIM:614202 ORPHA:3077 ORPHA:93932 ORPHA:369891 OMIM:616789 ORPHA:464738 OMIM:617983 OMIM:617985 OMIM:618238 ORPHA:447980 ORPHA:420179 OMIM:602535 OMIM:302350 OMIM:611091 ORPHA:137831 OMIM:615560 ORPHA:101039 OMIM:619150 OMIM:615802 ORPHA:247262 ORPHA:443811 ORPHA:280234 ORPHA:280224 ORPHA:3455 OMIM:614381 ORPHA:457279 ORPHA:464288 ORPHA:1187 ORPHA:79350 OMIM:151050 ORPHA:456312 ORPHA:508488 OMIM:300238 ORPHA:436245 ORPHA:353298 ORPHA:457395 OMIM:614833 OMIM:617709 ORPHA:576283 OMIM:607208 ORPHA:436151 OMIM:606232 OMIM:619121 ORPHA:59 ORPHA:370943 OMIM:617532 ORPHA:1106 ORPHA:457351 ORPHA:2044 ORPHA:521258 OMIM:612621 ORPHA:544254 ORPHA:480907 ORPHA:496641 ORPHA:2896 ORPHA:276193 ORPHA:457240 OMIM:216360 ORPHA:1194 OMIM:618947 ORPHA:2596 OMIM:615541 ORPHA:391307 ORPHA:163956 OMIM:276880 ORPHA:480880 OMIM:619291 ORPHA:572798 OMIM:617520 OMIM:604317 ORPHA:370930 ORPHA:506358 OMIM:618383 OMIM:300803
 

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