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GENATLAS PHENOTYPE

last update : 23-08-2017

Symbol	MRD46
Location	6q13
Name	mental retardation, autosomal dominant 46
Corresponding gene	KCNQ5
Main clinical features	delayed psychomotor development, mild to moderate intellectual disability with limited speech, seizures and hypotonia, but normal brain imaging
Genetic determination	autosomal dominant
Function/system disorder	mental retardation
	neurology
Type	disease

Remark(s)

. primary consequence of KCNQ5 mutations is likely a change in the gating properties of M-channels (PMID: 28669405))