Metadata | |
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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 |