Although more studies are needed to determine the penetrance of diabetes in individuals with PAX6 mutations as a function of age and mutation type, based on the published studies (summarized in Supplementary Table 4), it is reasonable to infer that PAX6 mutations do not typically cause young-onset diabetes but rather a slow progression from normal to impaired glucose tolerance which can manifest as diabetes later in life. Here, PAX6 is linked to diabetes mellitus.