Interestingly, it is recently found in mice that inactivation of SHH causes axial patterning defects with a phenotype of holoprosencephalic, which is similar to that found in the mice with deficiency of Megalin and in some of the human patients with Smith–Lemli–Opitz syndrome (SLOS) as well. The gene discussed is SHH; the disease is Smith-Lemli-Opitz syndrome.