Nineteen reported variants were recurrent in two or more unrelated probands in our data set, including NM_001163213.1(FGFR3):c.749C>G (p.Pro250Arg) causing Muenke syndrome present in six unrelated DDD probands16 and NM_001197104.1(KMT2A):c.2318dup (p.Ser774ValfsTer12) causing Wiedemann–Steiner syndrome present in five unrelated DDD probands. The gene discussed is FGFR3; the disease is Muenke syndrome.