SOX11 and intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism: In contrast, fundus changes were only discovered in our patient among those with CSS9 reported, representing an incidence rate of 1.72% (1/58); we speculate that this phenotype may have been largely overlooked in previous investigations of CSS9 cases, and suggest that extensive ophthalmological tests, including fundus screening, should be conducted routinely for individuals with CSS9, particularly those with significant visual impairment, as extensive ophthalmological malformations involving multiple lesions may occur in patients carrying SOX11 variants.