microphthalmia-brain atrophy syndrome
MeSH: C566985ORPHA: 77299
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with microphthalmia-brain atrophy syndrome, sourced from HPO and Orphanet clinical annotations.
BlindnessBilateral microphthalmosMicrocephalySpasticityVomitingDevelopmental regressionDiffuse cerebral atrophyLateral ventricle dilatationDiffuse demyelination of the cerebral white matterAtrophy/Degeneration affecting the brainstemCorpus callosum atrophyInappropriate cryingMultifocal seizuresGeneralized myoclonic seizureGeneralized-onset seizureCerebellar vermis atrophyAbnormal pons morphologyFocal hyperkinetic seizureVegetative stateTongue thrusting
Classification & Codes
MeSH Code
C566985Orphanet Code
ORPHA:77299microphthalmia-brain atrophy syndrome
| MeSH | C566985 |
| Orphanet | ORPHA:77299 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO