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48,XXXY syndrome

Disease definition

The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.

ORPHA:96263

  • Synonym(s): -
  • Prevalence: 1-9 / 100 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q98.1
  • OMIM: -
  • UMLS: C0265498
  • MeSH: -
  • GARD: 5676
  • MedDRA: 10048228

Detailed information

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Additional information

Further information on this disease

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