OnlineIMD

ATAD3A deficiency

  • Synonym(s)
    • Harel-Yoon syndrome
  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • ATAD3A / ATPase Family AAA Domain Containing 3A
      • 1p36.33
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • ATPase family AAA domain-containing protein 3A
  • Disease group(s)
    • 11.3    Disorders of mitochondrial protein quality control