Term Name: | autosomal recessive spinocerebellar ataxia 2 |
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Synonyms: | SCAR2 |
Definition: | An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34. |
Ontology: | Human Disease [DOID:0080061] ( DOID:0080061 ) |