Hao-Fountain syndrome due to 16p13.2 microdeletion

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Synonyms: Chromosome 16p13.2 deletion syndrome | Del(16)(p13.2) | Monosomy 16p13.2

A partial deletion of the short arm of chromosome 16 characterized by developmental delay intellectual disability speech delay autism spectrum disorder epilepsy hypogonadism and hypotonia. The behavioral profile includes impulsivity compulsivity stubbornness manipulative behaviors temper tantrums and aggressive behaviors.

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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Hao-Fountain syndrome due to 16p13.2 microdeletion?

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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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