An Mb deletion encompassing the FMR1, ASFMR1/FMR4 genes, and FX-MIR cluster detected in the proband may provoke the observed clinical phenotype including intellectual disability, attention-deficit hyperactivity disorder, distinct facial features, and macroorchidism, which are typical characteristics exhibited in individuals with FXS. The gene discussed is FMR1-AS1; the disease is Macroorchidism.