Human genes for ataxia with oculomotor apraxia type 2
Ataxia with oculomotor apraxia type 2 [DOID:0050755]
An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy and elevated alpha-fetoprotein, has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.
Synonyms: ataxia with oculomotor apraxia type 2, DOID:0050755