OBO ID: DOID:0080042 |
Term Name: | autosomal recessive spinocerebellar ataxia 18 | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
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
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.