Congenital cataract-hearing loss-severe developmental delay syndrome

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Synonyms: Congenital cataract-deafness-severe developmental delay syndrome | Huppke-Brendel syndrome | Lethal neurodegenerative disorder due to copper transport defect

Congenital cataract-hearing loss-severe developmental delay syndrome is a rare genetic lethal neurometabolic disease characterized by congenital cataracts sensorineural hearing loss severe psychomotor developmental delay severe generalized muscular hypotonia and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia hypomyelination wide subarachnoid spaces) in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported.

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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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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