| Metadata | |
|---|---|
| ID | DOID:0111829 |
| Name | X-linked spinocerebellar ataxia 1 |
| Definition | An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28. https://www.ncbi.nlm.nih.gov/pubmed/10797423, https://www.ncbi.nlm.nih.gov/pubmed/22912398 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
SCAX1 [EXACT] X-linked progressive cerebellar ataxia [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |