muscle-eye-brain disease with bilateral multicystic leucodystrophy
ORPHA: 370997
Available Treatments (0)
No treatments linked yet
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Clinical Presentation
Signs and symptoms associated with muscle-eye-brain disease with bilateral multicystic leucodystrophy, sourced from HPO and Orphanet clinical annotations.
Cerebellar vermis hypoplasiaAbsent speechHypoplasia of the corpus callosumVentriculomegalyPolymicrogyriaCerebellar cystAbnormal brainstem morphologyLeukodystrophyPoor head controlElevated circulating creatine kinase concentrationAbnormal pons morphologyFloppy infantSevere intellectual disabilityEEG with focal spike wavesSevere global developmental delayDelayed ability to sitHypoglycosylation of alpha-dystroglycanAgyriaDelayed ability to walkCataractRetinal dystrophyBuphthalmosHigh myopia
Classification & Codes
Orphanet Code
ORPHA:370997muscle-eye-brain disease with bilateral multicystic leucodystrophy
| Orphanet | ORPHA:370997 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO