Disease association ontology term - MONDO:0011439 - spinocerebellar ataxia type 12
Term summary
- ID
- MONDO:0011439
- Name
- spinocerebellar ataxia type 12
- Ontology or CV name
- Disease association
- Definition
- Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.
