Orphanet: 16p13.11 microduplication syndrome
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16p13.11 microduplication syndrome

Disease definition

16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.

ORPHA:261243

Classification level: Disorder
  • Synonym(s):
    • Dup(16)(p13.11)
    • Trisomy 16p13.11
  • Prevalence: Unknown
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q92.3
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Professionals

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