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GENATLAS PHENOTYPE

last update : 12-10-2016

Symbol	SCAR24
Location	3q22.1
Name	spinocerebellar ataxia, autosomal recessive 24
Corresponding gene	UBA5
Main clinical features	onset of gait instability and speech difficulties in infancy; markedly delayed growth in childhood but normal body size as adults; no cognitive involvement clinical features included gait and limb ataxia, dysarthria, nystagmus, and cataracts brain imaging showed cerebellar atrophy
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

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