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GENATLAS PHENOTYPE

last update : 03-11-2020

Symbol	CMT2DD
Location	10q24.32
Name	Charcot-Marie-Tooth disease, axonal, type 2DD
Corresponding gene	GBF1
Main clinical features	slowly progressive asymmetric distal muscle weakness predominantly in lower extremities, with bilateral foot drop, steppage gait also mild atrophy of hand, thenar, and hypothenar muscles, pes cavus and a hammertoe deformity.
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

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