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microphthalmia-brain atrophy syndrome

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0012638:  microphthalmia-brain atrophy syndrome
GARD:0009292: 
MESH:C566985: 
Orphanet:77299: 
SCTID:720010009: