OBO ID: DOID:0080042
Term Name: autosomal recessive spinocerebellar ataxia 18 Search Ontology:
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 )
OTHER autosomal recessive spinocerebellar ataxia 18 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GRID2 Spinocerebellar ataxia, autosomal recessive 18 616204
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None