OnlineIMD

CHCHD2 deficiency

  • Synonym(s)
    • Autosomal dominant Parkinson disease type 22
  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • CHCHD2 / Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 2
      • 7p11.2
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial
  • Disease group(s)
    • 19.1    Disorders of mitochondrial membrane biogenesis and remodeling