Medical Genetic Diagnosis and Therapy Center (Fujian Medical University)
General information
Personnel
- Bin Mao, Genetic Counselor
Phone: 86-0591-8727-9535
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 6
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Developmental and epileptic encephalopathy, 2 | 1 | Apr 5, 2023 |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 1 | Apr 6, 2023 |
| Landau-Kleffner syndrome | 1 | Apr 6, 2023 |
| Neuronal ceroid lipofuscinosis 7 | 2 | Apr 6, 2023 |
| Pyridoxine-dependent epilepsy | 1 | Apr 5, 2023 |