Additionally, 5–10% of sporadic and 40% of familial BWSp cases have intragenic CDKN1C pathogenic variants [17,18], and CDKN1C variants have also been observed in women with preeclampsia/HELLP (haemolysis, elevated liver enzymes, and low platelets) who were mothers of patients with BWS [19]. The gene discussed is CDKN1C; the disease is Beckwith-Wiedemann syndrome.