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GENATLAS PHENOTYPE

last update : 19-09-2017

Symbol	MRD43
Location	6q24.2
Name	mental retardation, autosomal dominant 43
Corresponding gene	HIVEP2
Main clinical features	global developmental delay apparent from infancy, hypotonia, and intellectual disability delayed walking at about 3 years of age, clumsy gait, and moderate to severe intellectual disability with poor speech acquisition
Genetic determination	autosomal dominant
Function/system disorder	mental retardation
Type	disease

Remark(s)