SMARCB1 gene and 22q11.2 recurrent region (distal type I,D-E/F) in the fragment have sufficient evidence for haploinsufficiency, which are associated with clinical phenotypes such as global developmental delay, intellectual disability, cleft lip, and behavioral problems (Mikhail et al., 2014; Holsten et al., 2018). This evidence concerns the gene SMARCB1 and Global developmental delay.