MRD36
MCID: MNT245
MIFTS: 24
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Mental Retardation, Autosomal Dominant 36 (MRD36)
Categories:
Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 36:
Characteristics:Orphanet epidemiological data:59
microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Mental diseases Eye diseases Bone diseases Cardiovascular diseases Skin diseases Ear diseases Gastrointestinal diseases |
UniProtKB/Swiss-Prot
:
75
Mental retardation, autosomal dominant 36: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
MalaCards based summary : Mental Retardation, Autosomal Dominant 36, is also known as mrd36. An important gene associated with Mental Retardation, Autosomal Dominant 36 is PPP2R1A (Protein Phosphatase 2 Scaffold Subunit Aalpha). Affiliated tissues include skin, bone and eye, and related phenotypes are hypertelorism and pectus excavatum Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R1A on chromosome 19q13.41.
Description from OMIM:
616362
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616362Human phenotypes related to Mental Retardation, Autosomal Dominant 36:32 (show all 29)
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MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 36:41
Skin,
Bone,
Eye
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UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 36:75
ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 36:6
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Search
GEO
for disease gene expression data for Mental Retardation, Autosomal Dominant 36.
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