Two SOX11 missense variants were first reported by Tsurusaki, Koshimizu, et al. (2014), who identified two patients with CSS‐related phenotypic features including facial dysmorphia, mild intellectual disability, hypertrichosis, microcephaly, growth delay, and hypoplastic fifth toenails, leading to the determination that these were pathogenic variants associated with the CSS9 disease subtype. The gene discussed is SOX11; the disease is intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism.