The genes responsible for syndromic CHD included TBX1 (22q11 deletion syndrome), ELN (Williams-Beuren syndrome), EVC2 and EVC (Wolf-Hirschhorn syndrome), STRA6 (15q24 recurrent microdeletion syndrome), FBN1 (Marfan syndrome), MID1 (Opitz G/BBB syndrome), RAD21 (Cornelia de Lange syndrome 4) and SETBP1 (Schinzel-Giedion midface retraction). The gene discussed is SETBP1; the disease is syndrome caused by partial chromosomal deletion.