OnlineIMD

Autosomal recessive dyskeratosis congenita type 2

  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • NHP2 / NHP2 Small Nucleolar RNA Binding Protein
      • 5q35.3
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • NHP2 small nucleolar RNA binding protein
  • Disease group(s)
    • 16.5    Other disorders of ribosomal biogenesis