OnlineIMD

ERAL1 deficiency

  • Synonym(s)
    • Perrault syndrome type 6
  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • ERAL1 / ERA Like 12S Mitochondrial Ribosome Assembly GTPase
      • 17q11.2
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • ERA Like 12S Mitochondrial Ribosome Assembly GTPase
  • Disease group(s)
    • 10.3.2    Disorders of mitoribosome modification and assembly