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Combined Oxidative Phosphorylation Deficiency 14
A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that is caused by homozygous or compound heterozygous mutation in th
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When to seek help
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Overview
A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that is caused by homozygous or compound heterozygous mutation in th
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