preferred_name: mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B
preferred_name_lc: mitochondrial complex v (atp synthase) deficiency, nuclear type 4b
label: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ENCEPHALOPATHIC, ATP5A1 TYPE
label_lc: mitochondrial complex v (atp synthase) deficiency, encephalopathic, atp5a1 type