Laryngeal abductor paralysis-intellectual disability syndrome

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Synonyms: Plott syndrome

A rare X-linked syndromic intellectual disability characterized by congenital and permanent vocal cord paralysis causing severe congenital laryngeal stridor associated with intellectual disability in male patients. Other presenting symptoms may include weak cry cough cyanosis neonatal asphyxia feeding difficulty aspiration and bronchiectasis. Microcephaly tone abnormalities visual and hearing impairment may also be associated features.

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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Laryngeal abductor paralysis-intellectual disability 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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