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References OMIM Gene GeneReviews HGMD HGNC
last update : 27-05-2013
Symbol COXPD9
Location 3q22.1
Name combined oxidative phosphorylation deficiency 9
Corresponding gene MRPL3
Main clinical features
  • normal growth and development in the first few months of life, and besides failure to thrive and poor feeding; hypertrophic cardiomyopathy and early death, hepatomegaly and psychomotor retardation
  • laboratory studies showed increased plasma lactate and alanine, as well as abnormal liver enzymes
  • Genetic determination autosomal recessive
    Related entries also hypertrophic cardiomyopathy, psychomotor retardation, and multiple respiratory chain deficiency (PMID: 21786366)
    Function/system disorder multisystem/generalized
    Type disease