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GENATLAS PHENOTYPE

last update : 18-10-2016

Symbol	SCAR18
Location	4q22.1
Name	spinocerebellar ataxia, autosomal recessive 18
Corresponding gene	GRID2
Main clinical features	characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability, including cases with retinal dystrophy delayed psychomotor development with hypotonia, truncal and appendicular ataxia, and difficulty walking, persistent tonic upgaze and nystagmus, and speech severely limited brain imaging shows progressive cerebellar atrophy
Genetic determination	autosomal recessive
Function/system disorder	neurology
	mental retardation
Type	disease

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