2q23.1 microdeletion syndrome

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Disease Overview

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.


Synonyms

  • Del(2)(q23.1)
  • chromosome 2q23.1 microdeletion syndrome
  • monosomy 2q23.1
  • pseudo-Angelman syndromeDel(2)(q23.1)
  • chromosome 2q23.1 microdeletion syndrome
  • monosomy 2q23.1
  • pseudo-Angelman syndrome