Figure 2

Diagram of the clinical involvement in premutation carriers and potential players. The FMR1 premutation may represent a first hit that in addition to additional second hits may result in the variability of the phenotype. ADHD, attention deficit hyperactivity disorder; ASD, autism spectrum disorder; FXPOI, fragile X-associated primary ovarian insufficiency; FXTAS, fragile X-associated tremor/ataxia syndrome.