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