9p13 microdeletion syndrome

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Synonyms: Del(9)(p13) | Monosomy 9p13

9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial interstitial deletion of the short arm of chromosome 9 characterized by mild to moderate developmental delay hand tremors myoclonic jerks attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism short stature and minor facial dysmorphic features (e.g. bilateral epicantic folds broad flat nasal bridge anteverted nares low-set ears micro/retro-gnathia).

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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9p13 microdeletion syndrome?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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