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autosomal recessive spinocerebellar ataxia 12
Summary
- Synonym
-
- SCAR12
- 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.
- Super Class
- autosomal recessive cerebellar ataxia
External Links
- Disease Ontology
- DOID:0080060
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
