2q23.1 microdeletion syndrome

From BugSigDB


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.
Aliases
  • 2q23.1 microdeletion syndrome
  • chromosome 2q23.1 microdeletion syndrome
  • Del(2)(q23.1)
  • Monosomy 2q23.1
  • monosomy 2q23.1
  • Pseudo-Angelman syndrome
  • pseudo-Angelman syndrome