Smith-Lemli-Opitz syndrome (SLOS; MIM 270400) is a neurodevelopmental disorder caused by inborn errors of cholesterol metabolism resulting from mutations in 7-dehydrocholesterol reductase (DHCR7) characterised by intellectual disability, CNS malformations (e.g., abnormalities in septum pellucidum and in corpus callosum, colpocephaly, arachnoid cysts, type I Chiari malformation), and multiple congenital anomalies and is possibly associated with adrenal insufficiency due to the impaired steroidogenesis [36, 37]. Here, DHCR7 is linked to Smith-Lemli-Opitz syndrome.