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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0016073
syndromic microphthalmia
is_a
MONDO:0024237
inherited neurodegenerative disorder
is_a
MCOPS10
exact
MOBA
related
MOBA syndrome
exact
microphthalmia and brain atrophy
related
microphthalmia syndromic 10
related
microphthalmia, syndromic 10
related
syndromic microphthalmia type 10
exact