OnlineIMD

Spondyloepiphyseal dysplasia tarda

  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • TRAPPC2 / Trafficking Protein Particle Complex Subunit 2
      • Xp22.2
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Trafficking protein particle complex subunit 2
  • Disease group(s)
    • 19.6.2    Disorders of the transport protein particle (TRAPP)