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2q23.1 microdeletion syndrome

Disease definition

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.

ORPHA:228402

  • Synonym(s):
    • Del(2)(q23.1)
    • Monosomy 2q23.1
    • Pseudo-Angelman syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: 156200
  • UMLS: -
  • MeSH: -
  • GARD: 10998
  • MedDRA: -

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