mental retardation autosomal dominant type, 14

mental retardation autosomal dominant type, 14

A condition (OMIM:614607) characterised by severe mental retardation and congenital defects, such as abnormal corpus callosum, absent or hypoplastic fifth finger- or 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 remodelling (npBAF) and the neuron-specific chromatin remodelling (nBAF) complexes, cause mental retardation autosomal dominant type 14.

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