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Microphthalmia-brain atrophy syndrome

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • MCOPS10
    • MOBA syndrome
    • Syndromic microphthalmia type 10
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q11.2
  • OMIM: 611222
  • UMLS: -
  • MeSH: -
  • GARD: 9292
  • MedDRA: -

Detailed information


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