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Mitochondrial complex V (ATP synthase) deficiency, nuclear type 5
rareAny mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1D gene.
- Identifiers
- MONDO:0020858 OMIM:618120
- Causal genes
- ATP5F1D
- Part of
- Mitochondrial proton-transporting ATP synthase complex deficiencyMitochondrial respiratory chain complex deficiency
- Also known as
- MC5DN5 · Mitochondrial Complex 5 (ATP Synthase) Deficiency, ATP5F1D Type · mitochondrial complex v (atp synthase) deficiency
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