PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

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A rare neurologic disease characterized by neonatal hypotonia global developmental delay feeding difficulties and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features myopathic facies respiratory problems and visual abnormalities such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter 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 June 2024

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PURA-related severe neonatal hypotonia-seizures-encephalopathy 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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