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Distal Xq28 microduplication syndrome

Disease definition

A rare syndromic X-linked intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, obesity, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.

ORPHA:293939

Classification level: Disorder
  • Synonym(s):
    • Distal dup(X)q(28)
    • Distal trisomy Xq28
    • Int22h1/Int22h2 mediated-Xq28 microduplication syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q99.8
  • OMIM: 300815
  • UMLS: C4751127
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Italiano (2018) Español (2020) Français (2020) Nederlands (2020) Polski ()

Detailed information

Disease review articles

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.