- X-linked recessive
- trinucleotide repeat disorder (in FMR 1 gene) - genetic anticipation
- most common cause of inherited intellectual disability
- second most common known cause of mental retardation in males
- expansion of CGG on X-chromosome
- 6-55 : normal
- 55-230 : premutation carrier
- 230->1000 : disease state / full mutation
- features: elongated face, prognathism, macroorchidism, large low set floppy ear, short stature, hyperflexible joints, high arched palate, ADHD, autism
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