Orphanet: 17p13.3 microduplication syndrome

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17p13.3 microduplication syndrome

Disease definition

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.


Classification level: Disorder
  • Synonym(s):
    • 17p13.3 duplication syndrome
    • Dup(17)(p13.3)
    • Trisomy 17p13.3
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q92.3
  • OMIM: 613215
  • UMLS: C2750748
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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