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spinocerebellar ataxia, autosomal recessive 12 (SACR12)
Genetics:
- 16q23.1-q23.2
- associated with mutations in WWOX
Clinical manifestations:
- features of spinocerebellar ataxia
- features specific to SCAR12
- onset of generalized seizures in infancy
- delayed psychomotor development with mental retardation
- some patients may also show spasticity
General
spinocerebellar ataxia, autosomal recessive
Database Correlations
OMIM 614322
References
- UniProt :accession Q9NZC7
- OMIM :accession 614322