Many post-squalene pathway disorders with documented CDP result from partial loss-of-function mutations, such as mutations in the NAD(P)-dependent steroid dehydrogenase-like (NSDHL) gene (Fig. S1), which result in congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome (Bornholdt et al., 2005; Mi et al., 2015; Herman and Kratz, 2012), and mutations in the emopamil binding protein (EBP) gene (Fig. S1), which result in X-linked dominant chondrodysplasia punctata (CDPX2), or Conradi-Hunermann-Happle syndrome (Cañueto et al., 2014; Herman and Kratz, 2012). The gene discussed is NSDHL; the disease is CHILD syndrome.