CDKN1C and Beckwith-Wiedemann syndrome: IDs caused by pathogenic gene sequence variants of imprinted genes have been reported in BWS (inhibiting CDKN1C mutations [19]), SRS (activating CDKN1C mutation [20]), AS (UBE3A mutations [21]), PHP (inactivating GNAS (which encodes the G protein α-subunit Gsα) mutations [22]), and SYS (MAGEL2 mutation [23]).