Term Name: | spinocerebellar ataxia with axonal neuropathy 1 |
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Synonyms: | autosomal recessive spinocerebellar ataxia with axonal neuropathy 1, SCAN1, 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. |
Ontology: | Human Disease [DOID:0090115] ( DOID:0090115 ) |