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Combined Oxidative Phosphorylation Deficiency 32
A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that is caused by homozygous or compound heterozygous mutation in the MRPS
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When to seek help
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Overview
A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that is caused by homozygous or compound heterozygous mutation in the MRPS
Resources
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