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 2026
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Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome?
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Advocacy Organizations
ReNU2 United
ReNU2 United fosters collaboration, supports families, raises awareness, and advances research into RNU2-2-related neurodevelopmental disease.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.