Unmasking autosomal recessive disorders by having a deletion in one 22q11.2 allele and a mutation on the other non-deleted allele has been described in GP1BB (Bernard–Soulier syndrome type B) [20], SNAP29 (CEDNIK syndrome—Cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma) [21], LZTR1 (Noonan syndrome) [22,23], SCARF2 (van den Ende-Gupta syndrome (VDEGS) [24], and CDC45 (CGS syndrome—craniosynostosis, gastrointestinal differences, short stature, and skeletal differences/Meier–Gorlin syndrome/Baller–Gerold syndrome) genes [25,26]. Here, GP1BB is linked to van den Ende-Gupta syndrome.