Specifically, loss‐of‐function mutations in the CDKN1C gene have been implicated in the pathogenesis of 5%–10% of BWS patients (Eggermann et al. 2014), while gain‐of‐function mutations in this gene have been linked to IMAGe syndrome (Berland et al. 2022). This evidence concerns the gene CDKN1C and Beckwith-Wiedemann syndrome.