OnlineIMD

Mitochondrial poly(A) exoribonuclease deficiency

  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • PDE12 / Phosphodiesterase 12
      • 3p14.3
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Phosphodiesterase 12
  • Disease group(s)
    • 10.1    Disorders of mitochondrial transcript processing and modification