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Microduplication Xp11.22p11.23 syndrome

Disease definition

Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.

ORPHA:217377

Classification level: Disorder
  • Synonym(s):
    • Dup(X)(p11.22p11.23)
    • Trisomy Xp11.22p11.23
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q99.8
  • OMIM: 300801
  • UMLS: C2749022
  • MeSH: -
  • GARD: 12766
  • MedDRA: -
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