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GENATLAS PHENOTYPE

last update : 14-11-2022

Symbol	SCAR29
Location	7p14.1
Name	spinocerebellar ataxia, autosomal recessive 29
Corresponding gene	VPS41
Main clinical features	progressive neurodegenerative disorder characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development also dysarthria, nystagmus, peripheral spasticity, nystagmus, and visual impairment brain imaging typically shows atrophy of the cerebellar vermis, but other abnormalities may also be present some patients are wheelchair-bound and/or nonverbal
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
Type	disease

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