Intellectual disability, profound

Symptom Information:

Symptom ID: HPO:0002187
Synonyms:
Mental retardation, profound [HPO:0002187]
Profound mental retardation [HPO:0002187]
Mental retardation, profound [OMIM:Mental retardation, profound]
Profound mental retardation [OMIM:Profound mental retardation]
Mental retardation, profound (WWS) [OMIM:Mental retardation, profound (WWS)]
Profound mental retardation [MedDRA:10036791]
Quality:
Cross references:
OMIM: "Mental retardation, profound" [OMIM:Mental retardation, profound]
OMIM: "Profound mental retardation" [OMIM:Profound mental retardation]
OMIM: "Mental retardation, profound (WWS)" [OMIM:Mental retardation, profound (WWS)]
Is a (Direct Parents):
HPO         Intellectual disability
MedDRA Intellectual disability
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)
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)