Lathosterolosis (LATHOS)

Lathosterolosis, also known as sterol c5-desaturase deficiency, is related to smith-lemli-opitz syndrome and greenberg dysplasia. An important gene associated with Lathosterolosis is SC5D (Sterol-C5-Desaturase). The drugs 7-dehydrocholesterol and Dehydrocholesterols have been mentioned in the context of this disorder. Affiliated tissues include liver and eye, and related phenotypes are cataract and global developmental delay