2-methylbutyryl-coa dehydrogenase deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| 2-methylbutyryl-CoA dehydrogenase deficiency | 79157 | ACADSB | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| 2-Methylbutyryl-CoA Dehydrogenase Deficiency | C1864912 | ACADSB | Causal Pathogenic evidence from ClinVar | 10832746, 11013134, 12837870, 15615815, 16317551, 17883863, 17945527, 20547083, 27604308 | ClinVar |