Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 03-04-2013
Symbol COXPD15
Location 15q22.31
Name combined oxidative phosphorylation deficiency 15
Corresponding gene MTFMT
Main clinical features
  • mild developmental delay affecting speech and coordination
  • global developmental delay, optic atrophy, impaired vision, pyramidal tract signs, incoordination
  • serum and CSF lactate were elevated
  • seizures, acute neurologic decompensation, and early death
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    Type disease