Combined Oxidative Phosphorylation Deficiency 2 (COXPD2)

Combined Oxidative Phosphorylation Deficiency 2, also known as coxpd2, is related to neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy and charcot-marie-tooth disease, axonal, type 2u. An important gene associated with Combined Oxidative Phosphorylation Deficiency 2 is MRPS16 (Mitochondrial Ribosomal Protein S16), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include liver and skin, and related phenotypes are agenesis of corpus callosum and neonatal hypotonia