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ID DOID:0050755
Name ataxia with oculomotor apraxia type 2
Definition 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.


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is_a autosomal recessive cerebellar ataxia

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