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.