Microphthalmia-brain atrophy syndrome

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Advocacy Organizations

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Clinical Trials

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