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GENATLAS PHENOTYPE

last update : 29-08-2023

Symbol	CMT2EE
Location	1q25.3
Name	Charcot-Marie-Tooth disease, axonal, type 2 EE
Corresponding gene	DHX9
Main clinical features	disease onset occurred in adulthood (2/3) or adolescence (1/3); typical features of CMT, a distal symmetric polyneuropathy including distal weakness, sensory deficits, and/or variable muscle wasting or foot deformities; in any cases painful sensory neuropathy axonal neuropathic process
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

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