CONCLUSIONS: These findings highlight the marked phenotypic variability associated with rare 8p23 CNVs and underscore the importance of detailed genomic profiling in NDDs. Gene-specific microdeletions may contribute to distinct clinical phenotypes, while larger deletions appear to be associated with more severe developmental outcomes. However, given the case-series design and the presence of variants of uncertain significance, the findings should be interpreted with caution. Further studies in…
