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FRAXE intellectual disability

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

Classification level: Disorder
  • Synonym(s):
    • Intellectual disability associated with fragile site FRAXE
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Antenatal, Neonatal, Infancy
  • ICD-10: Q99.2
  • ICD-11: LD90.Y
  • OMIM: 309548
  • UMLS: C4274328
  • MeSH: -
  • GARD: 2378
  • MedDRA: -

  A summary on this disease is available in Français (2021) Nederlands (2021) Deutsch (2008) Italiano (2008)

Detailed information

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.