Since 2014, when Tsurusaki et al. used WES technology to identify pathogenic mutations in SOX11 in two unrelated children with CSS-featured phenotypes, including hypertrichosis, impaired intellectual development, and hypoplastic distal fingers/toes (6), more than 50 individuals worldwide with multiple organ malformations carrying SOX11 variants have been reported and the phenotypic spectrum of CSS9 has expanded annually; hence, new reports describing CSS9-related phenotypes can help identify further genotype‒phenotype correlations related to this congenital disorder. This evidence concerns the gene SOX11 and intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism.