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References OMIM Gene GeneReviews HGMD HGNC
last update : 17-10-2017
Symbol SCAR13
Location 6q24.3
Name spinocerebellar ataxia, autosomal recessive 13
Corresponding gene GRM1
Main clinical features
  • neurologic disorder characterized by delayed psychomotor development beginning in infancy, mild to profound mental retardation with poor or absent speech as well as gait and stance ataxia and hyperreflexia, also eye movement abnormalities
  • dysarthria, mild dysdiadochokinesia, dysmetria and tremors, intellectual deficit, and mild pyramidal signs
  • brain MRI shows cerebellar atrophy and ventriculomegaly
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease