mental retardation autosomal dominant type 2

mental retardation autosomal dominant type 2

An inherited form (OMIM:614113) of mental retardation characterised by profound retardation and impaired adaptive behavior, first seen during early development.

Molecular pathology
Caused by defects of DOCK8, which encodes a putative guanine nucleotide exchange factor that activates some small GTPases by exchanging bound GDP for free GTP.
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