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.

单词	mental retardation autosomal dominant type, 14
释义	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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