Disease association ontology term - MONDO:0007574 - spinocerebellar ataxia type 34
Term summary
- ID
- MONDO:0007574
- Name
- spinocerebellar ataxia type 34
- Ontology or CV name
- Disease association
- Definition
- A subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.