Version: 8.0.0
Date: Tue Jan 28 2025
combined oxidative phosphorylation deficiency 6
DOID:0111502
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

combined oxidative phosphorylation deficiency 6

Definition
A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1.
Synonyms
  • COXPD6
  • Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6
Cross References
Parent Terms
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None
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