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Fragile X Syndrome

Disease Info

Males	1 in 4,000-5,000
Females	1 in 8,000-10,000
Carriers (premutation)	1 in 250-500 females, 1 in 800 males
Global distribution	Relatively uniform across populations
Diagnosis	Typically in early childhood (2-4 years)
Developmental delays	Apparent by 12-18 months
Intellectual disability	Evident in school-age children
Life expectancy	Generally normal with appropriate support
Databases	OMIM Orphanet ClinicalTrials PubMed

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