These are GABRD for 1p36 deletion and duplication syndrome, NPTN for 15q24 BP0-BP1 deletion syndrome, PAFAH1B1 for 17p13.3 deletion and duplication syndrome, MECP2 for Rett syndrome, and FMR1 for fragile X syndrome. The gene discussed is PAFAH1B1; the disease is fragile X syndrome.