OnlineIMD

Lanosterol 14-alpha-demethylase deficiency

  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • CYP51A1 / Cytochrome P450 Family 51 Subfamily A Member 1
      • 7q21.2
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Lanosterol 14-alpha demethylase
  • Disease group(s)
    • 14.7.1    Disorders of sterol biosynthesis