autosomal recessive cerebellar ataxia
Information
- Disease name
- autosomal recessive cerebellar ataxia
- Disease ID
- DOID:0050950
- Description
- "A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance." [url:http\://www.ncbi.nlm.nih.gov/books/NBK1138/]
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 | |
| NCT04261127 | Recruiting | N/A | Validation of the RADIAL Algorithm for Diagnosis of Autosomal Recessive Cerebellar Ataxia | September 20, 2021 | September 2029 |
- Disase is a (Disease Ontology)
- DOID:0050753
- Cross Reference ID (Disease Ontology)
- MIM:PS213200
- Cross Reference ID (Disease Ontology)
- ORDO:1172
- OrphaNumber from OrphaNet (Orphanet)
- 1172