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Human Disease

autosomal recessive spinocerebellar ataxia 18

Term ID
DOID:0080042
Synonyms
  • SCAR18
Definition
An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22. https://www.ncbi.nlm.nih.gov/pubmed/24078737
References
Ontology
Human Disease   ( DOID:0080042 )
Relationships
is a type of
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Genes Involved
Zebrafish Models