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| Term | Charlevoix-Saguenay spastic ataxia | ID (Ontology) | DOID:0050946 (Human Disease) |
| Definition | An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12. | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal recessive disease__ cerebellar ataxia____________| autosomal recessive cerebellar ataxia |__Charlevoix-Saguenay spastic ataxia |
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| Is a | autosomal recessive cerebellar ataxia | ||
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External Crossreferences & Linkouts
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GARD:4910 MESH:C536787 MIM:270550 |
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