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GENATLAS PHENOTYPE

last update : 04-12-2014

Symbol	SCAR16
Location	16p13.3
Name	spinocerebellar ataxia, autosomal recessive 16
Corresponding gene	STUB1
Main clinical features	progressive neurologic disorder characterized by truncal and limb ataxia resulting in gait instability, onset in the teenage years, although earlier and later onset have been reported . dysarthria, nystagmus, spasticity of the lower limbs, and mild peripheral sensory neuropathy brain MRI showed cerebellar atrophy
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

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