| Metadata | |
|---|---|
| ID | DOID:0070414 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070414 Copy |
| Name | autosomal recessive spinocerebellar ataxia 33 |
| Definition | An autosomal recessive cerebellar ataxia characterized by delayed motor development apparent in infancy, unsteady ataxic gait, intention tremor, nystagmus, and speech delay with dysarthria that has_material_basis_in homozygous mutation in the RNU12 gene on chromosome 22q13. https://pubmed.ncbi.nlm.nih.gov/27863452/ |
| Xrefs | |
| Synonyms |
SCAR33 [EXACT] |
| Parent Relationships |