The SHH gene encodes sonic hedgehog, a secreted protein that is involved in establishing cell fates at several points during the development and his strictly associated with HPE (Echelard et al., 1993; Solomon et al., 2010); nevertheless, the patient had no brain anomalies of HPE spectrum in the MRI scan of brain, but only microcephaly; clinical expression of microform HPE may be represented by midline anomalies as high palate, according to the wide spectrum of clinical manifestations caused by mutation in the SHH gene (Kruszka, Hart, Hadley, Muenke, & Habal, 2015; Solomon et al., 2010). The gene discussed is SHH; the disease is microcephaly.