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FRAXE intellectual disability

ORPHA:100973· ICD-10 Q99.2

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.

Prevalence
1-9 / 1 000 000
Inheritance
X-linked recessive
Age of onset
Antenatal, Infancy, Neonatal