Thus, a second round of gene studies was required based on the dysmorphological features, including FGFR1 - Kallman syndrome, KMT2D - KS, KMD6A - KS, RERE - neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, SOX2 - SOX2 disorder, TCOF1 - Treacher Collins syndrome, and ZEB2 - Mowat-Wilson syndrome. The gene discussed is SOX2; the disease is neurodevelopmental disorder.