Microphthalmia-brain atrophy syndrome

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.

Also known as: MCOPS10, MOBA syndrome, syndromic microphthalmia type 10, MOBA, microphthalmia and brain atrophy, microphthalmia syndromic 10, microphthalmia, syndromic 10

0 clinical trials for this condition and its sub-types, 0 tagged with Microphthalmia-brain atrophy syndrome itself.