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spinocerebellar ataxia with axonal neuropathy 1
Summary
- Synonym
-
- SCAN1
- autosomal recessive spinocerebellar ataxia with axonal neuropathy 1
- spinocerebellar ataxia with axonal neuropathy type 1
- Definition
- A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11.
- Super Class
- autosomal recessive cerebellar ataxia
External Links
- Disease Ontology
- DOID:0090115
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
