combined oxidative phosphorylation defect type 2
Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.
MONDO:0000732
combined oxidative phosphorylation deficiency
is_a
COXPD2
exact
MRPS16 combined oxidative phosphorylation deficiency
exact
combined oxidative phosphorylation deficiency 2
related
combined oxidative phosphorylation deficiency caused by mutation in MRPS16
exact
combined oxidative phosphorylation deficiency type 2
exact
SPBC354.06