Desmosterolosis (DESMOS)

Desmosterolosis, also known as deficiency of 3beta-hydroxysterol delta24-reductase, is related to smith-lemli-opitz syndrome and greenberg dysplasia, and has symptoms including muscle spasticity and seizures. An important gene associated with Desmosterolosis is DHCR24 (24-Dehydrocholesterol Reductase). The drugs 7-dehydrocholesterol and Dehydrocholesterols have been mentioned in the context of this disorder. Affiliated tissues include bone and brain, and related phenotypes are intellectual disability and spasticity