mitochondrial complex IV deficiency, nuclear type 20

Rare Disease

MONDO:0033655

Also Known As

MC4DN20mitochondrial complex IV deficiency, nuclear type 20

Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX5A gene.

Comprehensive, easy-to-understand information about this condition

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Gene data from MyGene.info • Click to view on NCBI Gene

pancreatic insufficiency-anemia-hyperostosis syndrome

MONDO:0012992

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MONDO:0033636

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MONDO:0033637

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MONDO:0033638

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MONDO:0033639