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GENATLAS PHENOTYPE

last update : 25-05-2016

Symbol	CLA4
Location	3p26.1
HGNC id	33444
Name	cerebellar ataxia 4
Other name(s)	spinocerebellar ataxia 29
Corresponding gene	ITPR1
Other symbol(s)	SCA29
Main clinical features	early-onset nonprogressive form of ataxia, oscillopsia, normal intelligence, truncal ataxia, mild limb dysmetria, upbeating nystagmus, and gaze-provoked horizontal nystagmus ; at the IRM, hypoplasia or partial aplasia of the cerebellar vermis
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)