Pediatric Metabolic Diseases (Hacettepe University)
General information
Personnel
- Yilmaz Yildiz, Staff
Phone: +905416622399
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 12
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Adult hypophosphatasia | 1 | Apr 1, 2023 |
| Coarse facial features | 1 | Jun 30, 2020 |
| Isovaleryl-CoA dehydrogenase deficiency | 1 | Jun 25, 2019 |
| Myopathy with abnormal lipid metabolism | 1 | Jun 1, 2018 |
| Neutropenia | 1 | Jun 30, 2020 |
| PMM2-congenital disorder of glycosylation | 7 | Oct 27, 2019 |
| Peripheral neuropathy | 1 | Jun 30, 2020 |
| Splenomegaly | 1 | Jun 30, 2020 |
| Succinyl-CoA acetoacetate transferase deficiency | 1 | May 20, 2019 |