preferred_name: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
preferred_name_lc: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
label: NAD(P)HX epimerase deficiency
label_lc: nad(p)hx epimerase deficiency