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FRAXE intellectual disability
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Disease definition
A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported.
ORPHA:100973
A summary on this disease is available in
Français (2021)
Deutsch (2021)
Italiano (2008)
Nederlands (2021)
Detailed information
Guidelines
Clinical practice guidelines
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Newborn screening
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