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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

Classification level: Disorder
  • Synonym(s):
    • Microdeletion 9q22.3
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • ICD-11: LD44.90
  • OMIM: -
  • UMLS: C3711390
  • MeSH: C579873
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2006) Français (2006) Nederlands (2006)

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.