Bernard et al. reported 19 patients having developmental delay, seizures, optic atrophy, nystagmus, dysphagia, hypersalivation, hypodontia, and hypogonadotropic hypogonadism with homozygous missense POLR3A mutations located in different domains (Bernard et al., 2011). The gene discussed is POLR3A; the disease is optic atrophy.