mental retardation—autosomal dominant 15

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mental retardation—autosomal dominant 152016-11-27T04:39:53+00:00

mental retardation—autosomal dominant 15 

NEUROLOGY 

Definition An autosomal dominant condition (OMIM:614608) characterised by mental retardation* and multiple congenital defects, including developmental delay, hypotonia, absent or hypoplastic fifth finger or toenails, coarse facies, sparse scalp hair, thick eyebrows, and long eyelashes, variably accompanied by microcephaly, small cerebellum, seizures, hearing loss, abnormal delayed dentition, hirsutism.

*Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behaviour and manifested during the developmental period.

Molecular pathology Defects in SMARCB1, which encodes a core component of the ATP-dependent chromatin-remodeling BAF (hSWI/SNF) complex that plays key roles in cell proliferation and differentiation, cause mental retardation—autosomal dominant 15. 

References http://www.uniprot.org/uniprot/Q12824

http://www.omim.org/entry/614608

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