Twenty-nine had MGCM: neurofibromatosis (n = 8), tuberous sclerosis (n = 5), Beckwith-Wiedemann (n = 4), and 1 or 2 subjects each with the following diagnoses: glutaric aciduria type I, Sturge-Weber syndrome, Sotos syndrome, Fragile X syndrome, Noonan syndrome, Leopard syndrome, Bannayan-Riley-Ruvalcaba syndrome, hemimegalencephaly, X-linked MR associated with MECP2 duplication, and diffuse thickening of the skull with no known syndrome. The gene discussed is MECP2; the disease is fragile X syndrome.