OBO ID: DOID:0050977
Term Name: spinocerebellar ataxia type 28 Search Ontology:
Synonyms:
Definition: An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene. https://rarediseases.info.nih.gov/diseases/9951/spinocerebellar-ataxia-28
References:
Ontology: Human Disease   (DOID:0050977)
OTHER spinocerebellar ataxia type 28 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AFG3L2 Spinocerebellar ataxia 28 610246
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None