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GENATLAS PHENOTYPE

last update : 04-12-2014

Symbol	SCAR15
Location	3q29
Name	spinocerebellar ataxia, autosomal recessive 15
Corresponding gene	RUBCN
Main clinical features	onset of cerebellar ataxia in early childhood, delayed motor development with delayed walking and also severe form of the disorder, with an unsteady gait apparent since learning to walk dysarthria, upper limb involvement, abnormal eye movements, and hyporeflexia, also epilepsy brain MRI was normal or with mild cerebellar atrophy
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)