OnlineIMD

PET100 deficiency

  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • PET100 / PET100 mitochondrial translation regulation complex subunit
      • 19p13.2
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Mitochondrial translation regulation complex subunit
  • Disease group(s)
    • 7.4.2        Disorders of nuclear encoded complex IV assembly factors