Pediatric Neurology (Shengjing Hospital of China Medical University), PN
General information
Personnel
- Tingyi Guo, Contact
Phone: 18940257947
Email: [email protected] - Liang Huo, Medical Director
Phone: 18940256156
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 12
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Charcot-Marie-Tooth disease, demyelinating, type 1G | 1 | Jul 24, 2023 |
| Developmental and epileptic encephalopathy 103 | 1 | Jan 31, 2023 |
| Developmental and epileptic encephalopathy, 78 | 5 | Aug 26, 2024 |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 5 | Jun 25, 2023 |