Intellectual disability, severe
Symptom Information:
Symptom ID: | HPO:0010864 | ||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the nervous system(HPO:0000707) Abnormality of nervous system physiology(HPO:0012638) Abnormality of higher mental function(HPO:0011446) Cognitive impairment(HPO:0100543) Intellectual disability(HPO:0001249) Intellectual disability, severe(HPO:0010864) MedDRA: Nervous system disorders(MedDRA:10029205) Mental impairment disorders(MedDRA:10057167) Intellectual disability(HPO:0001249) Intellectual disability, severe(HPO:0010864) Social circumstances(MedDRA:10041244) Lifestyle issues(MedDRA:10024450) Disability issues(MedDRA:10057171) Intellectual disability(HPO:0001249) Intellectual disability, severe(HPO:0010864) |
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Database Frequency: | 120 / 7739 | ||||||||||||||
Resource: |
All diseases associated with this symptom:
14q11.2 microdeletion syndrome | (Orphanet:261120) |
15q13.3 microdeletion syndrome | (Orphanet:199318) |
5q14.3 microdeletion syndrome | (Orphanet:228384) |
ALOPECIA-MENTAL RETARDATION SYNDROME 1 | (OMIM:203650) |
ALOPECIA-MENTAL RETARDATION SYNDROME 3 | (OMIM:613930) |
ARIMA SYNDROME | (OMIM:243910) |
ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION,AND FACIAL ANOMALIES | (OMIM:208080) |
Acrocallosal syndrome | (Orphanet:36) |
Aicardi-Goutières syndrome | (Orphanet:51) |
Allan-Herndon-Dudley syndrome | (Orphanet:59) |
Alopecia - contractures - dwarfism - intellectual deficit | (Orphanet:1005) |
Alopecia-intellectual deficit syndrome | (Orphanet:2850) |
Alpha-N-acetylgalactosaminidase deficiency | (Orphanet:3137) |
Alpha-N-acetylgalactosaminidase deficiency type 1 | (Orphanet:79279) |
Alpha-N-acetylgalactosaminidase deficiency type 3 | (Orphanet:79281) |
Amelo-cerebro-hypohidrotic syndrome | (Orphanet:1946) |
Angelman syndrome | (Orphanet:72) |
Arthrogryposis - renal dysfunction - cholestasis | (Orphanet:2697) |
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET | (OMIM:114100) |
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency | (Orphanet:329255) |
Borjeson-Forssman-Lehmann syndrome | (Orphanet:127) |
CADDS | (Orphanet:369942) |
CAMOS syndrome | (Orphanet:83472) |
CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME | (OMIM:212540) |
CEDNIK syndrome | (Orphanet:66631) |
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME2 | (OMIM:610185) |
CHOROID PLEXUS CALCIFICATION AND MENTAL RETARDATION | (OMIM:215480) |
CLN10 disease | (Orphanet:228337) |
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG | (OMIM:218649) |
Cataract - intellectual deficit - hypogonadism | (Orphanet:1387) |
Christianson syndrome | (Orphanet:85278) |
Congenital neuronal ceroid lipofuscinosis | (Orphanet:168486) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 | (OMIM:612164) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 | (OMIM:613477) |
Ectodermal dysplasia - intellectual deficit - central nervous system malformation | (Orphanet:1812) |
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation | (Orphanet:1970) |
Faciocardiorenal syndrome | (Orphanet:1973) |
Fatal infantile lactic acidosis with methylmalonic aciduria | (Orphanet:17) |
GOMBO SYNDROME | (OMIM:233270) |
GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGEJOINT CONTRACTURES, OSTEOPOROSIS, CORTICAL DYSPLASIA, AND CEREBELLARATROPHY | (OMIM:608278) |
HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS | (OMIM:610680) |
HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME | (OMIM:236450) |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 | (OMIM:239300) |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 | (OMIM:614207) |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 | (OMIM:225250) |
Hyperekplexia - epilepsy | (Orphanet:163985) |
Hyperphosphatasia-intellectual deficiency syndrome | (Orphanet:247262) |
Hypotonia - cystinuria syndrome | (Orphanet:163690) |
Infantile cerebellar-retinal degeneration | (Orphanet:313850) |
Intellectual deficit - myopathy - short stature - endocrine defect | (Orphanet:3068) |
Intellectual deficit - sparse hair - brachydactyly | (Orphanet:3051) |
Intellectual deficit, X-linked, Brooks type | (Orphanet:3056) |
Intellectual deficit, X-linked, Vitale type | (Orphanet:85289) |
Isolated thyroid-stimulating hormone deficiency | (Orphanet:90674) |
Joubert syndrome 14 | (OMIM:614424) |
Joubert syndrome with oculorenal defect | (Orphanet:2318) |
KAHRIZI SYNDROME | (OMIM:612713) |
KEPPEN-LUBINSKY SYNDROME | (OMIM:614098) |
Kapur-Toriello syndrome | (Orphanet:2328) |
Kleefstra syndrome | (Orphanet:261494) |
L-2-hydroxyglutaric aciduria | (Orphanet:79314) |
Leigh syndrome | (Orphanet:506) |
Leukocyte adhesion deficiency type II | (Orphanet:99843) |
Lissencephaly due to TUBA1A mutation | (Orphanet:171680) |
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY | (OMIM:606369) |
MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY,AND SHORT STATURE | (OMIM:609037) |
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS | (OMIM:613671) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 | (OMIM:615074) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 | (OMIM:608443) |
MENTAL RETARDATION, KERATOCONUS, FEBRILE SEIZURES, AND SINOATRIALBLOCK | (OMIM:609438) |
MGAT2-CDG | (Orphanet:79329) |
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:614673) |
MICROHYDRANENCEPHALY | (OMIM:605013) |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 | (OMIM:615159) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 | (OMIM:236670) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 14 | (OMIM:615350) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 | (OMIM:613150) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 | (OMIM:253280) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 1 | (OMIM:613155) |
Maternally-inherited cardiomyopathy and hearing loss | (Orphanet:1349) |
Micrencephaly - corpus callosum agenesis - abnormal genitalia | (Orphanet:2508) |
Microcephalic primordial dwarfism, Alazami type | (Orphanet:319671) |
Microcephalic primordial dwarfism, Dauber type | (Orphanet:319675) |
Microcephaly - seizures - developmental delay | (Orphanet:228418) |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency | (Orphanet:1194) |
Monosomy 18q | (Orphanet:1600) |
Muscle-eye-brain disease | (Orphanet:588) |
NEPHROSIALIDOSIS | (OMIM:256150) |
NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY | (OMIM:256720) |
PALANT CLEFT PALATE SYNDROME | (OMIM:260150) |
PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE | (OMIM:608097) |
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | (OMIM:214100) |
Pachygyria - epilepsy - intellectual deficit - dysmorphism | (Orphanet:94084) |
Peroxisomal acyl-CoA oxidase deficiency | (Orphanet:2971) |
Pitt-Hopkins syndrome | (Orphanet:2896) |
Pitt-Hopkins-like syndrome 2 | (OMIM:614325) |
Pontocerebellar hypoplasia, type 9 | (OMIM:615809) |
Pseudoleprechaunism syndrome, Patterson type | (Orphanet:2976) |
Pyruvate dehydrogenase E1-alpha deficiency | (Orphanet:79243) |
RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION | (OMIM:268050) |
RETT SYNDROME, CONGENITAL VARIANT | (OMIM:613454) |
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE | (OMIM:614066) |
SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE | (OMIM:612936) |
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE | (OMIM:613744) |
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE | (OMIM:614067) |
Severe intellectual deficit and progressive spastic paraplegia | (Orphanet:280763) |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | (Orphanet:369939) |
Severe neonatal-onset encephalopathy with microcephaly | (Orphanet:209370) |
Sialidosis type 2 | (Orphanet:87876) |
Simpson-Golabi-Behmel syndrome type 2 | (Orphanet:79022) |
Steinert myotonic dystrophy | (Orphanet:273) |
Syndromic X-linked intellectual deficit due to JARID1C mutation | (Orphanet:85279) |
TEMPLE-BARAITSER SYNDROME | (OMIM:611816) |
Urocanic aciduria | (Orphanet:210128) |
WARBURG MICRO SYNDROME 2 | (OMIM:614225) |
WARBURG MICRO SYNDROME 4 | (OMIM:615663) |
Wolf-Hirschhorn syndrome | (Orphanet:280) |
X-linked intellectual deficit - hypotonic face | (Orphanet:73220) |
Zellweger syndrome | (Orphanet:912) |
Zimmermann-Laband syndrome | (Orphanet:3473) |