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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-11-2020
Symbol COXPD24
Location 11q14.1
Name combined oxidative phosphorylation deficiency 24
Corresponding gene NARS2
Main clinical features
  • in infancy, delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment due to auditory neuropathy
  • less common features may include cortical blindness, renal dysfunction, and/or liver involvement, suggestive of Alpers syndrome
  • severe phenotype tend to have brain abnormalities on imaging, including cerebral atrophy and hyperintensities in the basal ganglia and brainstem, consistent with Leigh syndrome, with early death
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease