Isovaleryl-coa dehydrogenase deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Isovaleryl-CoA dehydrogenase deficiency | C0268575 | IVD | Causal Pathogenic evidence from ClinVar | 1310317, 2063866, 2318964, 6630517, 9665741, 10677295, 10713113, 15337167, 15486829, 16602101, 16825284, 17027310, 17576084, 19099814, 20519759, 22004070, 22350545, 22960500, 23587913, 24019846, 24516753, 24637313, 24816252, 25220015, 26018748, 26937393, 27629047, 27904153, 28535199, 30709776 | ClinVar |