Monosomy 9q22.3
Synonyms: Microdeletion 9q22.3
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
Monosomy 9q22.3?
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Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.