The genetic diagnoses in these patients include four with CHARGE syndrome (CHD7 variants), three with Usher 1B syndrome (MYO7A variants), one with suspected Usher 1D syndrome (CDH23 variants), one with Waardenburg syndrome type 2 (MITF variant), one with Waardenburg syndrome type 3 (PAX3 variant), two with LEOPARD syndrome (PTPN11 variants), one with suspected Wolfram syndrome (WFS1 variant), one with dominant optic atrophy (OPA1 variant), one with Crouzon Syndrome (FGFR3 variant), one with Stickler syndrome type I (COL2A1), and one with DiGeorge syndrome (TBX1 variant). This evidence concerns the gene TBX1 and autosomal dominant optic atrophy.