OnlineIMD

PNPLA4 deficiency

  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • PNPLA4 / patatin like phospholipase domain containing 4
      • Xp22.31
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Patatin-like phospholipase domain-containing protein 4
  • Disease group(s)
    • 19.1    Disorders of mitochondrial membrane biogenesis and remodeling