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