autosomal dominant cerebellar ataxia, deafness and narcolepsy
Information
- Disease name
- autosomal dominant cerebellar ataxia, deafness and narcolepsy
- Disease ID
- DOID:0050968
- Description
- "An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene." [url:https\://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy]
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)
- GARD:12372
- Cross Reference ID (Disease Ontology)
- MIM:604121