Microphthalmia syndromic 10
Alternate names
MCOPS10; Microphthalmia and brain atrophy; MOBA
Definition
Microphthalmia-brain atrophy (MOBA) syndrome is 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.
NIH genetic and rare disease info
Microphthalmia syndromic 10 is a rare disease.
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