microphthalmia-brain atrophy syndrome
Findings
No curated finding names microphthalmia-brain atrophy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0012638), read 2026-09-29. CC BY 4.0.
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bilateral microphthalmosHPOHP:0007633
- Very frequent (80% to 99% of cases)
- BlindnessHPOHP:0000618
- Very frequent (80% to 99% of cases)
- Atrophy/Degeneration affecting the brainstemHPOHP:0007366
- Frequent (30% to 79% of cases)
- Corpus callosum atrophyHPOHP:0007371
- Frequent (30% to 79% of cases)
- Developmental regressionHPOHP:0002376
- Frequent (30% to 79% of cases)
- Diffuse cerebral atrophyHPOHP:0002506
- Frequent (30% to 79% of cases)
- Diffuse demyelination of the cerebral white matter
Show the remaining 8
- VomitingHPOHP:0002013
- Frequent (30% to 79% of cases)
- Abnormal pons morphologyHPOHP:0007361
- Occasional (5% to 29% of cases)
- Cerebellar vermis atrophyHPOHP:0006855
- Occasional (5% to 29% of cases)
- Focal hyperkinetic seizureHPOHP:0011174
- Occasional (5% to 29% of cases)
- Generalized myoclonic seizureHPOHP:0002123
- Occasional (5% to 29% of cases)
- Generalized-onset seizureHPOHP:0002197
- Occasional (5% to 29% of cases)
Where it sits
Other names
3 names
Resolves to: microphthalmia-brain atrophy syndrome
- Also called
- MCOPS10MOBA syndromesyndromic microphthalmia type 10