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Human Disease

spastic ataxia 1

Term ID
DOID:0050772
Synonyms
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
References
Ontology
Human Disease   ( DOID:0050772 )
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