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5q35 microduplication syndrome

Disease definition

The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.

ORPHA:228415

  • Synonym(s):
    • Dup(5)(q35)
    • Trisomy 5q35
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Childhood
  • ICD-10: Q92.3
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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