Metadata | |
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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 |
Xrefs | |
Synonyms |
SCAR12 [EXACT] |
Parent Relationships |