Approved symbol | BCKDK |
---|---|
Approved name | branched chain keto acid dehydrogenase kinase |
HGCN ID | HGNC:16902 |
Previous symbols | |
Inheritance | |
OMIM | 614901 |
Chromosome | 16p11.2 |
Panel(s) |
NGS Intellectual disability NGS Mendelioom NGS Metabole aandoeningen NGS Preconceptiepanel (t.b.v. consanguine paren) |