| Metadata | |
|---|---|
| ID | DOID:0080059 |
| Name | autosomal recessive spinocerebellar ataxia 7 |
| Definition | An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15. https://ghr.nlm.nih.gov/gene/TPP1, https://www.ncbi.nlm.nih.gov/pubmed/26224725 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
SCAR7 [EXACT] |
| Parent Relationships |