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ID DOID:0080060
Name autosomal recessive spinocerebellar ataxia 12
Definition An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23.
https://www.ncbi.nlm.nih.gov/pubmed/24369382
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OMIM:614322

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is_a autosomal recessive cerebellar ataxia

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