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17q21.31 microduplication syndrome

Disease definition

The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.

ORPHA:217340

  • Synonym(s):
    • Dup(17)(q21.31)
    • Trisomy 17q21.31
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q92.3
  • OMIM: 613533
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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