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chromosome 17q23.1-q23.2 deletion syndrome

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

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

Synonyms

  • 17q23.1-q23.2 microdeletion syndrome
  • 17q23.1q23.2 microdeletion syndrome
  • Del(17)(q23.1q23.2)
  • chromosome 17q23.1-q23.2 deletion syndrome
  • chromosome 17q23.1-q23.2 deletion syndrome, isolated cases
  • monosomy 17q23.1-q23.2
  • monosomy 17q23.1q23.217q23.1-q23.2 microdeletion syndrome
  • 17q23.1q23.2 microdeletion syndrome
  • Del(17)(q23.1q23.2)
  • chromosome 17q23.1-q23.2 deletion syndrome
  • chromosome 17q23.1-q23.2 deletion syndrome, isolated cases
  • monosomy 17q23.1-q23.2
  • monosomy 17q23.1q23.2
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