Pediatric Department (Beijing Jishuitan Hospital, Capital Medical University)
General information
Personnel
- Huihui Sun, Principal Investigator
Phone: +15901218108
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 7
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 1 | Apr 8, 2024 |
| Intellectual disability, autosomal dominant 50 | 1 | Apr 3, 2024 |
| Multiple epiphyseal dysplasia type 1 | 1 | Apr 1, 2024 |
| Noonan syndrome 10 | 1 | Apr 2, 2024 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 1 | Apr 8, 2024 |
| Pseudohypoparathyroidism type I A | 1 | Apr 8, 2024 |
| Wiedemann-Steiner syndrome | 1 | Apr 8, 2024 |