A multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system.
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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
oxoglutaricaciduria
MONDO:0008759