Rare, hereditary, mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.
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mitochondrial respiratory chain complex deficiency
MONDO:0000066
combined oxidative phosphorylation deficiency
MONDO:0000732
myopathy, lactic acidosis, and sideroblastic anemia
MONDO:0000863
optic atrophy 3
MONDO:0008133
autosomal dominant optic atrophy, classic form
MONDO:0008134
Leigh syndrome
MONDO:0009723