| Metadata | |
|---|---|
| ID | DOID:0070410 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070410 Copy |
| Name | autosomal recessive spinocerebellar ataxia 29 |
| Definition | An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the VPS41 gene on chromosome 7p14. https://pubmed.ncbi.nlm.nih.gov/33764426/ |
| Xrefs | |
| Synonyms |
SCAR29 [EXACT] |
| Parent Relationships |