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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

OMIM:108600

Parent Relationships

is_a spastic ataxia

is_a autosomal dominant disease

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