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GENATLAS PHENOTYPE

last update : 25-10-2010

Symbol	DICMT4
Location	16q23.1
Name	dominant intermediate Charcot-Marie-Tooth neuropathy 4
Other name(s)	Charcot-Marie-Tooth disease, recessive intermediate, B
Corresponding gene	KARS
Other symbol(s)	CMTRIB
Main clinical features	neuropathy, with liability to pressure palsies developmental delay, self-abusive behavior, dysmorphic features
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)