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Metadata
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
Xrefs

OMIM:213200

Synonyms

SCAR2 [EXACT]

Parent Relationships

is_a autosomal recessive cerebellar ataxia

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