Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 18-11-2013

Symbol	MRD13
Location	14q32.31
Name	mental retardation, autosomal dominant 13
Corresponding gene	DYNC1H1
Main clinical features	mental retardation associated with variable neuronal migration defects resulting in cortical malformations variable features include early-onset seizures and mild dysmorphic features, peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities
Genetic determination	autosomal dominant
Function/system disorder	neurology
	neuromuscular
	mental retardation
Type	disease

Remark(s)