The presence of 55–200 repeats is considered an FMR1 premutation, which is associated with fragile X-associated tremor/ataxia syndrome (FXTAS, MIM 300623) [6, 7] and, in female individuals, with fragile X-associated premature ovarian insufficiency (FXPOI; MIM 311360) [8, 9]. The gene discussed is FMR1; the disease is fragile X-associated tremor/ataxia syndrome.