Ophthalmological abnormalities previously reported in individuals with CSS9 mainly present as deformities in external ocular structures, such as the eyelid, musculus oculi, and iris, but there are no reports of internal ocular structure malformations directly caused by SOX11 mutation. Here, SOX11 is linked to intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism.