Disease association ontology term - MONDO:0012450 - spinocerebellar ataxia type 28

Term summary

ID

MONDO:0012450

Name

spinocerebellar ataxia type 28

Ontology or CV name

Disease association

Definition

Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.

Parents

• is_a mitochondrial oxidative phosphorylation disorder
• is_a autosomal dominant cerebellar ataxia type I

Annotation