Department of Pediatric Endocrinology and Inherited Metabolic Diseases (Children’s Hospital of Fudan University)
General information
Personnel
- Zhuo Chang, Staff
Phone: +18602164931124
Email: Alice_lzl@163.com
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 6
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AAAS | 2 | May 24, 2021 |
| CYP21A2 | 2 | May 24, 2021 |
| LOC106780800 | 2 | May 24, 2021 |
| NNT | 1 | May 24, 2021 |
| NR0B1 | 1 | May 24, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 2 | May 24, 2021 |
| Congenital adrenal hypoplasia, X-linked | 1 | May 24, 2021 |
| Glucocorticoid deficiency 4 | 1 | May 24, 2021 |
| Glucocorticoid deficiency with achalasia | 2 | May 24, 2021 |