7p22.1 microduplication syndrome

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Synonyms: Dup(7)(p22.1) | Trisomy 7p22.1

7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial interstitial microduplication of the short arm of chromosome 7 characterized by intellectual disability psychomotor and speech delays craniofacial dysmorphism (including macrocephaly frontal bossing hypertelorism abnormally slanted palpebral fissures anteverted nares low-set ears microretrognathia) and cryptorchidia. Cardiac (e.g. patent foramen ovale and atrial septal defect) as well as renal skeletal and ocular abnormalities may also be associated.

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 June 2024

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7p22.1 microduplication 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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