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Monosomy 9q22.3

Orpha number ORPHA77301
Synonym(s) Microdeletion 9q22.3
Prevalence <1 / 1 000 000
Inheritance Not applicable
Unknown
Age of onset Infancy
Neonatal
ICD-10
  • Q93.5
ICD-O -
OMIM -
UMLS -
MeSH -
MedDRA -

Summary

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.


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Detailed information

Clinical genetics review
  • EN (2014)
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