Late detection of assembly factors with severe phenotype includes genes such as NDUFAF3, SURF1, TACO1, SCO1, LYRM7, or TIMMDC1, whose mutations are commonly found in patients with mitochondrial diseases (Fernandez-Vizarra and Zeviani, 2021) (Fig. EV2F). The gene discussed is SCO1; the disease is inborn mitochondrial metabolism disorder.