Smith Lemli Opitz Syndrome (SLOS) is a rare genetic disorder characterized by multiple congenital anomalies and intellectual disability. It is caused by a defect in cholesterol metabolism due to mutations in the DHCR7 gene, which encodes the enzyme 7-dehydrocholesterol reductase. This enzyme is crucial for the final step of cholesterol biosynthesis. The deficiency leads to low cholesterol levels and accumulation of cholesterol precursors, resulting in various developmental issues.
