Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY | C4225391 | ECHS1 | Causal Pathogenic evidence from ClinVar | 8012501, 25125611, 25393721, 26000322, 26081110, 26251176, 26741492, 26938784, 27221955, 27905109 | ClinVar |