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GENATLAS PHENOTYPE

last update : 17-01-2015

Symbol	CMT2O
Location	14q32.31
Name	Charcot-Marie-Tooth disease, axonal, type 20
Corresponding gene	DYNC1H1
Main clinical features	axonal peripheral neuropathy, with in childhood delayed motor milestones and/or an abnormal gait and difficulty running, slowly progressive distal lower limb weakness and wasting with pes cavus deformity nerve conduction studies were within the normal range, and sural nerve biopsies demonstrated changes consistent with axonal degeneration
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

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