Orphanet: 2q23.1 microdeletion syndrome

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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.


Classification level: Disorder
  • 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: -

Detailed information


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