Respective diagnoses were related to the following genes or disorders: ANKRD11, CEP290, CHD2, DEPDC5, DNMT3A, FMR1, GNAS, GRIN2A, MECP2, MITF, MYT1L, NPR2, NPRL3, PCDH19, PTEN, SCN2A, SLC6A8, TSEN54, WDR45, MECP2 duplication syndrome, 22q11.2 deletion syndrome, 17p12 deletion syndrome (incl. The gene discussed is WDR45; the disease is 22q11.2 deletion syndrome.