preferred_name: branched-chain keto acid dehydrogenase kinase deficiency
preferred_name_lc: branched-chain keto acid dehydrogenase kinase deficiency
label: autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
label_lc: autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency