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GENATLAS PHENOTYPE

last update : 19-08-2012

Symbol	DHMN5B
Location	2p11.2
Name	distal hereditary motor neuronopathy type VB
Corresponding gene	REEP1
Other symbol(s)	HMN5B, DSMAVB
Main clinical features	neurologic disorder characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower legs, resulting in abnormal gait and pes cavus
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)