OnlineIMD

Lanosterol synthase deficiency

  • Synonym(s)
    • 2,3-oxidosqualene-lanosterol cyclase deficiency
  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • LSS / LSS
      • 21q22.3
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Lanosterol synthase
  • Disease group(s)
    • 14.7.1    Disorders of sterol biosynthesis
  • Child entries
    • LSS-related cataracts
    • LSS-related hypotrichosis simplex
    • Alopecia-intellectual disability syndrome
    • Autosomal recessive palmoplantar keratoderma and congenital alopecia