spinocerebellar ataxia type 29
Information
- Disease name
- spinocerebellar ataxia type 29
- Disease ID
- DOID:0050978
- Description
- "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene." [url:https\://rarediseases.info.nih.gov/diseases/10480/spinocerebellar-ataxia-29]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01793168 | Recruiting | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford | July 2010 | December 2100 |
- Disase is a (Disease Ontology)
- DOID:1441
- Cross Reference ID (Disease Ontology)
- MIM:117360
- OrphaNumber from OrphaNet (Orphanet)
- 208513
- MedGen concept unique identifier (MedGen Concept name)
- C4274987
- MedGen unique identifier (MedGen Concept name)
- 896171