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Monosomy 9q22.3

Disease definition

Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.

ORPHA:77301

  • Synonym(s):
    • Microdeletion 9q22.3
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: -
  • UMLS: C3711390
  • MeSH: -
  • GARD: -
  • MedDRA: -

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