In line with this, RMND1 pathogenic variants cause a generalized mitochondrial translation defect and are detected in patients with combined oxidative phosphorylation deficiency (COXPD11; MIM #614922), a severe recessive condition characterized by the presence of lactic acidosis, deafness, renal and liver dysfunction, central nervous system and muscle involvement with an onset at birth or early infancy [4,5]. Here, RMND1 is linked to deafness.