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GENATLAS PHENOTYPE

last update : 06-01-2015

Symbol	JDND
Location	13q32.1
Name	juvenile-onset diabetes and central and peripheral neurodegeneration
Corresponding gene	DNAJC3
Main clinical features	juvenile-onset diabetes and central and peripheral neurodegeneration, including ataxia, upper-motor-neuron damage, peripheral neuropathy, hearing loss, and cerebral atrophy early-onset ataxia of combined cerebellar and afferent origin (age of onset = 2–34 years) and sensorimotor peripheral neuropathy predominantly of the demyelinating type
Genetic determination	autosomal recessive
Function/system disorder	endocrinology
	neurology
	ear
Type	disease

Remark(s)