OnlineIMD
Lathosterolosis
Synonym(s)
Sterol Delta-5-desaturase deficiency
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
SC5D
/ Sterol-C5-desaturase
11q23.3-q24.1
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Delta(5)-desaturase
Disease group(s)
14.7.1 Disorders of sterol biosynthesis