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GENATLAS PHENOTYPE

last update : 13-12-2017

Symbol	CMTDIE
Location	14q32.33
Name	Charcot-Marie-Tooth disease, dominant intermediate E
Corresponding gene	INF2
Main clinical features	distal muscle weakness and atrophy and distal sensory loss, and possible association with FSGS, including proteinuria, progression to end-stage renal disease, and a characteristic histologic pattern on renal biopsy walking difficulties in infancy, requiring orthopedic corrections, and hand weakness; weakness of the peroneal and anterior tibial muscles with steppage gait median age of onset of proteinuria was 18 years, and median age at onset of neurologic dysfunction was 13 years
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)