OBO ID: DOID:0050772
Term Name: spastic ataxia 1 Search Ontology:
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 )
Relationships
is a type of:
OTHER spastic ataxia 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
VAMP1 Spastic ataxia 1, autosomal dominant 108600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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