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GENATLAS PHENOTYPE

last update : 14-10-2016

Symbol	SCAR17
Location	10q24.31
Name	spinocerebellar ataxia, autosomal recessive 17
Corresponding gene	CWF19L1
Main clinical features	neurologic disorder characterized by onset of gait ataxia and cerebellar signs in early childhood and also variable intellectual disability mildly delayed walking with an unsteady gait and frequent falls, dysarthria, dysmetria, hypotonia in the extremities, truncal ataxia, and increased reflexes in the lower extremities brain MRI showed cerebellar hypoplasia predominantly affecting the vermis
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)