Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome

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Synonyms: Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome

A rare genetic neurological disorder characterized by early-onset progressive leukoencephalopathy severe developmental delay early-onset or congenital deafness (only few cases reported without hearing loss) and visual impairment. All patients manifest calcifications in brain and spinal cord. Cognitive impairment seizures hypotonia spastic tetraplegia or quadriplegia are observed in the majority of the patients. Variable features may include microcephaly and anemia.

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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