muscle-eye-brain disease
ORPHA: 588
Overview
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 muscle-eye-brain disease, sourced from HPO and Orphanet clinical annotations.
HydrocephalusStrabismusGlaucomaVisual impairmentCataractMyopiaOptic atrophySeizureHypotoniaHypertoniaGait disturbanceHoloprosencephalyAbnormality of the voiceAbnormal speech patternEEG abnormalityMeningoceleMyopathyElevated circulating creatine kinase concentrationEMG abnormalityHemiplegia/hemiparesisAplasia/Hypoplasia of the cerebellumAbnormality of movementCognitive impairment
Classification & Codes
Orphanet Code
ORPHA:588muscle-eye-brain disease
| Orphanet | ORPHA:588 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO