Branched-chain keto acid dehydrogenase kinase deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY | C3554078 | BCKDK | Causal Pathogenic evidence from ClinVar | 8064409, 16875466, 22956686, 24449431, 26809120, 27472223, 27604308 | ClinVar |