Approved symbol | BCKDHA |
---|---|
Approved name | branched chain keto acid dehydrogenase E1 subunit alpha |
HGCN ID | HGNC:986 |
Previous symbols | OVD1A |
Inheritance | |
OMIM | 608348 |
Chromosome | 19q13.2 |
Panel(s) |
NGS Bewegingsstoornissen NGS Intellectual disability NGS Mendelioom NGS Metabole aandoeningen NGS Preconceptiepanel (t.b.v. consanguine paren) NGS Wittestofziekten |