Inborn Errors of Metabolism (Hospital Clinic, IDIBAPS, CIBERER)
General information
Personnel
- Frederic Tort Escale, Staff
Phone: +34 93 2275400
Email: ftort@ciberer.es
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 2
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Brody myopathy | 1 | Apr 28, 2020 |
| Heimler syndrome 1 | 1 | Oct 24, 2022 |