Henan Neurodevelopment Engineering Research Center for Children (Children's Hospital Affiliated to Zhengzhou University), HNERCFC
General information
Personnel
- Dongxiao Li, Lab Director
Phone: +8613137118120
Email: lidongxiao@bjmu.edu.cn - Jing Liu, Staff
Phone: +8615036067307
Email: liuj_20200402@163.com - Zhenkun Zhang, Staff
Phone: +8615560097097
Email: zhangzhenkun93@163.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 6
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss 1A | 1 | Oct 18, 2024 |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 2 | Jul 10, 2023 |
| Glutamate pyruvate transaminase 2 deficiency | 1 | Mar 16, 2022 |
| Noonan syndrome 1 | 1 | Oct 18, 2024 |
| X-linked ichthyosis with steryl-sulfatase deficiency | 1 | Oct 18, 2024 |