| Metadata | |
|---|---|
| ID | DOID:0080042 |
| PURL | http://purl.obolibrary.org/obo/DOID_0080042 Copy |
| Name | autosomal recessive spinocerebellar ataxia 18 |
| 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 |
| Xrefs | |
| Synonyms |
SCAR18 [EXACT] |
| Parent Relationships |