Microphthalmia-brain atrophy syndrome
Synonyms: MCOPS10 | MOBA syndrome | Syndromic microphthalmia type 10
A rare genetic neurodegenerative disorder characterized by congenital microphthalmia sunken eyes blindness microcephaly severe intellectual disability progressive spasticity and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes especially cortex cerebellum brainstem and corpus callosum atrophy with complete loss of cerebral white matter.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Microphthalmia-brain atrophy syndrome?
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Genetic Support Network of Victoria
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Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
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Curing single-gene disorders
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