Term Name: spinocerebellar ataxia with axonal neuropathy 1
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 )

Relationships
is a type of: autosomal recessive cerebellar ataxia