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