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ID | DOID:0080061 |
Name | autosomal recessive spinocerebellar ataxia 2 |
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. https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia, https://www.omim.org/entry/606002 |
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Synonyms |
SCAR2 [EXACT] |
Parent Relationships |