Intellectual disability, profound
Symptom Information:
Symptom ID: | HPO:0002187 | ||||||
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, profound(HPO:0002187) MedDRA: Nervous system disorders(MedDRA:10029205) Mental impairment disorders(MedDRA:10057167) Intellectual disability(HPO:0001249) Intellectual disability, profound(HPO:0002187) Social circumstances(MedDRA:10041244) Lifestyle issues(MedDRA:10024450) Disability issues(MedDRA:10057171) Intellectual disability(HPO:0001249) Intellectual disability, profound(HPO:0002187) |
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Database Frequency: | 44 / 7739 | ||||||
Resource: |
All diseases associated with this symptom:
AICA-ribosiduria | (Orphanet:250977) |
AICARDI-GOUTIERES SYNDROME 1 | (OMIM:225750) |
Aicardi syndrome | (Orphanet:50) |
Atypical Rett syndrome | (Orphanet:3095) |
Bohring-Opitz syndrome | (Orphanet:97297) |
CEREBROOCULOFACIOSKELETAL SYNDROME 1 | (OMIM:214150) |
COFS syndrome | (Orphanet:1466) |
Cleft palate | (Orphanet:2014) |
Congenital ichthyosis - intellectual deficit - spastic quadriplegia | (Orphanet:352333) |
Congenital intrauterine infection-like syndrome | (Orphanet:1229) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 | (OMIM:615006) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 | (OMIM:300672) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 | (OMIM:613477) |
Fumaric aciduria | (Orphanet:24) |
Hurler syndrome | (Orphanet:93473) |
Intellectual deficit, X-linked, Stocco Dos Santos type | (Orphanet:85288) |
Leigh syndrome | (Orphanet:506) |
MICROPHTHALMIA, SYNDROMIC 9 | (OMIM:601186) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 | (OMIM:257300) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 | (OMIM:236670) |
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 BRAIN AND EYEANOMALIES), TYPE A, 5 | (OMIM:613153) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 | (OMIM:614643) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 6 | (OMIM:608840) |
Matthew-Wood syndrome | (Orphanet:2470) |
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus | (Orphanet:83473) |
Microcephaly-capillary malformation syndrome | (Orphanet:294016) |
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome | (Orphanet:329332) |
Microlissencephaly | (Orphanet:1083) |
Mosaic variegated aneuploidy syndrome | (Orphanet:1052) |
Mucopolysaccharidosis type 2 | (Orphanet:580) |
Muscle-eye-brain disease | (Orphanet:588) |
PEHO syndrome | (Orphanet:2836) |
PEHO-like syndrome | (Orphanet:99807) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D | (OMIM:613811) |
Pelizaeus-Merzbacher-like due to HSPD1 mutation | (Orphanet:280288) |
Polymicrogyria with optic nerve hypoplasia | (Orphanet:250972) |
Rett syndrome | (Orphanet:778) |
Tetrasomy 12p | (Orphanet:884) |
Thanatophoric dysplasia type 1 | (Orphanet:1860) |
Ulna hypoplasia - intellectual deficit | (Orphanet:2249) |
WARBURG MICRO SYNDROME 3 | (OMIM:614222) |
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | (Orphanet:324410) |