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GENATLAS PHENOTYPE

last update : 18-10-2016

Symbol	SCAR22
Location	2q11.2
Name	spinocerebellar ataxia, autosomal recessive 22
Corresponding gene	VWA3B
Main clinical features	intellectual disability associated with adult-onset cerebellar ataxia; following normal early development, the patients showed variable severity of intellectual disability cerebellar ataxia manifested at around 40 years of age, with dysarthria and gait instability with falls; initial neurologic examination showed pyramidal signs, including hyperreflexia and spasticity of the lower limbs, as well as cerebellar signs, such as dysmetria and nystagmus
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
	mental retardation
Type	disease

Remark(s)