Pyruvate dehydrogenase phosphatase deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Pyruvate dehydrogenase phosphatase deficiency | 79246, C1837429 | PDP1 | Causal Pathogenic evidence from ClinVar | 15855260, 27604308, 31392110 | ClinVar |