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GENATLAS PHENOTYPE
last update : 13-07-2017
Symbol CMT2W
Location 5q31.3
Name Charcot-Marie-Tooth disease, axonal, type 2W
Corresponding gene HARS
Main clinical features
  • neurologic disorder characterized by a peripheral neuropathy mainly affecting the lower limbs and resulting in gait difficulties and distal sensory impairment, although most patients also have upper limb involvement
  • the age at onset is highly variable
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Remark(s)