Branched-chain keto acid dehydrogenase kinase deficiency

Disease Term Disease ID Gene Symbol Classification References Source
BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
614923C3554078MONDO:0013970OMIM:614923
BCKDK Causal
16875466 22956686 24449431 26809120 27472223 8064409
CTD ClinGen ClinVar Disgenet HPO