OnlineIMD

BSCL2-related disease

  • Type
    Disease
  • Gene
    • BSCL2 / Seipin
      • 11q12.3
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Seipin
  • Disease group(s)
    • 14.4    Disorders of glycerolipid metabolism
  • Child entries
    • Seipin deficiency
    • Seipin superactivity