Orphanet: 8q12 microduplication syndrome

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8q12 microduplication syndrome

Disease definition

The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term).


Classification level: Disorder
  • Synonym(s):
    • Dup(8)(q12)
    • Trisomy 8q12
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q92.3
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 12816
  • MedDRA: -
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