Moreover, several monogenic EA/TEF associated syndromes are caused by smaller de novo changes comprising single nucleotides or small indels e.g. N-MYC in Feingold syndrome (OMIM #164280), GLI2 in Pallister-Hall syndrome (OMIM #146510), CHD7 in CHARGE syndrome (OMIM #214800), and SOX2 in AEG syndrome (OMIM #206900) [8; 9; 10; 11]. The gene discussed is CHD7; the disease is CHARGE syndrome.