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GENATLAS PHENOTYPE

last update : 04-12-2014

Symbol	SCAR14
Location	11q13.2
Name	spinocerebellar ataxia, autosomal recessive 14
Corresponding gene	SPTBN2
Main clinical features	neurologic disorder characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability severely delayed motor development, gait ataxia and dysmetria and dysdiadochokinesis of the limbs CT scans of the older patients showed progressive cerebellar atrophy, whereas CT of the youngest patient showed mild hypoplasia of the posterior corpus callosum
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)