| Metadata | |
|---|---|
| ID | DOID:0050772 |
| Name | spastic ataxia 1 |
| Definition | A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13. https://rarediseases.info.nih.gov/diseases/4910/spastic-ataxia-charlevoix-saguenay-type |
| Xrefs | |
| Parent Relationships |
is_a autosomal dominant disease is_a spastic ataxia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |