| Metadata | |
|---|---|
| ID | DOID:0070558 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070558 Copy |
| Name | autosomal recessive spinocerebellar ataxia 34 |
| Definition | An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CA8 gene on chromosome 8q12.1. https://pubmed.ncbi.nlm.nih.gov/19461874/, https://pubmed.ncbi.nlm.nih.gov/32808436/, https://pubmed.ncbi.nlm.nih.gov/38581205/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CAMRQ syndrome 3 [EXACT] CAMRQ3 [EXACT] cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 [EXACT] cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 [EXACT] cerebellar ataxia, mental retardation, and disequilibrium syndrome 3 [EXACT] SCAR34 [EXACT] spinocerebellar ataxia, autosomal recessive 34 [EXACT] |
| Parent Relationships |