SHANK3 and Waardenburg syndrome: Beyond recurrent CNVs, this study identified unique pathogenic variants affecting genes associated with neurodevelopmental outcomesNotably, deletions related to SOX10 and SHANK3 CNVs were each observed in two patients, with one patient exhibiting concurrent deletions of both SOX10 and SHANK3. SOX10, which is typically associated with neural crest development and conditions such as Waardenburg syndrome and peripheral neuropathies (Pingault et al., 2022), was found in this study to be linked with DD and ID.