| Metadata | |
|---|---|
| ID | DOID:0111611 |
| Name | autosomal recessive spinocerebellar ataxia 4 |
| Definition | An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21. https://www.ncbi.nlm.nih.gov/pubmed/29604224 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive cerebellar ataxia-saccadic intrusion syndrome [EXACT] SCA24 [EXACT] SCAR4 [EXACT] SCASI [EXACT] spinocerebellar ataxia 24 [EXACT] spinocerebellar ataxia with saccadic intrusions [EXACT] |
| Parent Relationships |