Combined oxidative phosphorylation defect type 24 is an autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe infantile-onset neurodegenerative disorder (Vanlander et al., 2015; Sofou et al., 2015). The disease is Combined oxidative phosphorylation defect type 24 (Experimental Factor Ontology id EFO_0009034). Also known as: COXPD24.