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17q23.1q23.2 microdeletion syndrome

Disease definition

17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.


Classification level: Disorder
  • Synonym(s):
    • Del(17)(q23.1q23.2)
    • Monosomy 17q23.1q23.2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: 613355
  • UMLS: -
  • MeSH: -
  • GARD: 10936
  • MedDRA: -

Detailed information


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