17q23.1q23.2 microdeletion syndrome

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Synonyms: Del(17)(q23.1q23.2) | Monosomy 17q23.1q23.2

17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay microcephaly short stature heart defects and limb abnormalities.

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 July 2024

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17q23.1q23.2 microdeletion syndrome?

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Advocacy Organizations

TBX4Life

TBX4Life promotes a cure for the diseases caused by mutations in TBX4 Gene (TBX4 Syndrome). Its mission includes: Advocate for those affected by TBX4 Syndrome; Enable access for patients to all relevant information; Sponsor, host, participate in activities that promote efforts to cure TBX4-associated diseases; Consolidate disease-relevant data from patients to foster research for TBX4

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Clinical Trials

For a list of clinical trials in this disease area, please click here.