Version: 8.0.0
Date: Tue Jan 28 2025
combined oxidative phosphorylation deficiency 14
DOID:0111477
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

combined oxidative phosphorylation deficiency 14

Definition
A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.1.
Synonyms
  • COXPD14
Cross References
Parent Terms
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