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References OMIM Gene GeneReviews HGMD HGNC
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