Table 2.

Clinical Features of FMR1-related Disorders

Fragile X syndrome	Large occipitofrontal head circumference
	Long face, prominent jaw, prominent ears
	Macroorchidism
	Connective tissue laxity, mitral valve prolapse
	Hypotonia
	Intellectual disability, low IQ, speech and motor delay
	Behavioral problems, autism and attention deficit spectrum disorders
Fragile X-associated premature ovarian insufficiency	Premature ovarian failure prior to age 40
	Impaired ovarian response
Fragile X-associated tremor/ataxia syndrome	Intention tremor
	Cerebellar gait ataxia
	Dementia