| Metadata | |
|---|---|
| ID | DOID:0111831 |
| PURL | http://purl.obolibrary.org/obo/DOID_0111831 Copy |
| Name | X-linked spinocerebellar ataxia 3 |
| Definition | An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance. https://www.ncbi.nlm.nih.gov/pubmed/3614654 |
| Xrefs |
SNOMEDCT_US_2021_09_01:719817002 |
| Subsets |
DO_rare_slim |
| Synonyms |
SCAX3 [EXACT] X-linked ataxia-deafness syndrome [EXACT] X-linked spinocerebellar ataxia type 3 [EXACT] |
| Parent Relationships |