Version: 8.0.0
Date: Tue Jan 28 2025
combined oxidative phosphorylation deficiency 24
DOID:0111485
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

combined oxidative phosphorylation deficiency 24

Definition
A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1.
Synonyms
  • COXPD24
Cross References
Parent Terms
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None
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