Here, we have focused on six syndromes, namely Fragile X syndrome (FXS), Angelman syndrome (AS), Phelan–McDermid Syndrome (PMS), Rett syndrome (RS), Tuberous sclerosis (TSC), and Neurofibromatosis type 1 (NF1), which are caused by abnormalities in FMR1, UBE3A, GABRB3, GABRA5, GABRG3, SHANK3, MECP2, TSC1, TSC2, and NF1. Here, NF1 is linked to X-linked retinoschisis.