Like Weaver syndrome, which arises from missense mutations in EZH2 (Gibson et al., 2012; Tatton-Brown et al., 2013), and Imagawa-Matsumoto syndrome, which arises from missense mutations in SUZ12 (Imagawa et al., 2018), Cohen-Gibson syndrome is a rare congenital syndrome that is associated with craniofacial malformations, advanced bone age, intellectual disability, and developmental delay (Spellicy et al., 2019). This evidence concerns the gene SUZ12 and Weaver syndrome.