Similarly, patients with Smith-Lemli-Opitz syndrome, which results from mutations in the 7-dehydrocholesterol reductase (DHCR7) gene (Fig. S1), and CDPX2, a result of mutations in the EBP gene (Fig. S1), often present with normal cholesterol levels and elevated levels of sterol intermediates (Braverman et al., 1999; Porter, 2008; Porter and Herman, 2011; Wassif et al., 1998). This evidence concerns the gene DHCR7 and Smith-Lemli-Opitz syndrome.