spinocerebellar ataxia with axonal neuropathy 1 (DOID:0090115)
Alliance: disease page
Synonyms: autosomal recessive spinocerebellar ataxia with axonal neuropathy 1; SCAN1; spinocerebellar ataxia with axonal neuropathy type 1
Alt IDs: OMIM:607250, ICD10CM:G60.2, ORDO:94124
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.