However, it was reported that only 0.6% (8/1,423) of individuals with heterozygous PRRT2 mutations present ID (Ebrahimi-Fakhari et al., 2015), and PRRT2 mutations are not related to increased susceptibility to ASD (Huguet et al., 2014), suggesting that the maternally inherited c.649dup variant of PRRT2 may not completely explain the phenotypes of ID and autism observed in patient 9. The gene discussed is PRRT2; the disease is autism.