Medical

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.

Mentioned in

ARID1A
GRIN1
GRIN2B
Held
KIRREL3
mental retardation autosomal dominant type 3
mental retardation autosomal dominant type, 12
mental retardation autosomal dominant type, 14
mental retardation autosomal dominant type, 15
mental retardation autosomal dominant type, 4
mental retardation, autosomal dominant, type 5
MRD14
MRD15
MRD4
MRD6
RDT
SMARCB1

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