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GENATLAS PHENOTYPE

last update : 27-08-2014

Symbol	SCA34
Location	6q14.1
Name	spinocerebellar ataxia 34
Corresponding gene	ELOVL4
Main clinical features	neurocutaneous disorder characterized by onset of erythremia and hyperkeratosis in early childhood, followed by slowly progressive cerebellar ataxia manifesting in the fourth or fifth decade of life but cognition is preserved
Genetic determination	autosomal dominant
Function/system disorder	dermatology
	neurology
Type	disease

Remark(s)