Background: Snijders Blok-Campeau syndrome (SNIBCPS) is a rare genetic disorder characterized by facial abnormalities, hypotonia, macrocephaly, and global developmental delay (GDD) caused by mutations in gene. There is limited information on SNIBCPS and few studies on its pathogenic gene .
Methods: We utilized whole-exome sequencing, minigene splicing assay analysis, and construction of protein models to validate the suspected pathogenic mutation.