Orphanet: 17q11.2 microduplication syndrome

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17q11.2 microduplication syndrome

Disease definition

17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.


Classification level: Disorder
  • Synonym(s):
    • Dup(17)(q11.2)
    • Grisart-Destrée syndrome
    • Trisomy 17q11.2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q92.3
  • OMIM: 618874
  • UMLS: C3150928
  • MeSH: -
  • GARD: -
  • MedDRA: -
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