Bohring-Opitz syndrome
Information
- Disease name
- Bohring-Opitz syndrome
- Disease ID
- Description
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| ASXL1 | 20 | 32,358,331 | 32,439,319 | 2 |
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 | |
| NCT03303716 | Recruiting | ASXL-Related Disorders Registry | September 20, 2017 | September 2037 |
- OrphaNumber from OrphaNet (Orphanet)
- 97297