autosomal recessive spinocerebellar ataxia 2

Term ID

DOID:0080061

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. (2)

References

• OMIM:213200

Ontology

Human Disease   ( DOID:0080061 )