| Approved symbol | BCKDHB |
|---|---|
| Approved name | branched chain keto acid dehydrogenase E1 subunit beta |
| HGCN ID | HGNC:987 |
| Previous symbols | |
| Inheritance | |
| OMIM | 248611 |
| Chromosome | 6q14.1 |
| Panel(s) |
NGS Bewegingsstoornissen NGS Intellectual disability NGS Mendelioom NGS Metabole aandoeningen NGS Preconceptiepanel NGS Preconceptiepanel (t.b.v. consanguine paren) NGS Wittestofziekten |
