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Jacobsen syndrome

Disease definition

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

ORPHA:2308

  • Synonym(s):
    • Del(11)(q23.3)
    • Del(11)(qter)
    • Distal deletion 11q
    • Distal monosomy 11q
    • Monosomy 11qter
    • Telomeric deletion 11q
  • Prevalence: Unknown
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q93.5
  • OMIM: 147791
  • UMLS: C0795841
  • MeSH: D054868
  • GARD: 307
  • MedDRA: -

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