| Metadata | |
|---|---|
| ID | DOID:0111833 |
| Name | X-linked spinocerebellar ataxia 5 |
| Definition | An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1. https://www.ncbi.nlm.nih.gov/pubmed/18241076 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
SCAX5 [EXACT] Spinocerebellar Ataxia, X-Linked 5 [EXACT] X-linked non progressive cerebellar ataxia [EXACT] |
| Parent Relationships |