mental retardation—autosomal dominant 14

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mental retardation—autosomal dominant 142016-11-27T04:34:29+00:00

mental retardation—autosomal dominant 14 

NEUROLOGY

A condition (OMIM:614607) characterised by severe mental retardation and congenital defects–e.g., abnormal corpus callosum, absent or hypoplastic fifth finger/toenails, sparse scalp hair, long eyelashes, coarse facies with wide mouth, thick lips, and abnormal ears.

Molecular pathology Defects in ARID1A, which encodes a protein belonging to the neural progenitors-specific chromatin remodeling–npBAF and the neuron-specific chromatin remodeling–nBAF complexes, cause mental retardation—autosomal dominant 14. 

References http://www.uniprot.org/uniprot/O14497

http://www.omim.org/entry/614607

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