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muscle-eye-brain disease with bilateral multicystic leucodystrophy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

muscle-eye-brain disease with bilateral multicystic leucodystrophy

MONDO:0018280

Also known as:MEB disease with bilateral multicystic leucodystrophy

Overview

Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Cerebellar vermis hypoplasia, Absent speech, Hypoplasia of the corpus callosum, and Enlarged brain ventricles (ventriculomegaly) and others; and sometimes findings: Cataract, Retinal dystrophy, Buphthalmos, and High myopia.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Absent speech, Enlarged brain ventricles (ventriculomegaly), Abnormal brainstem morphology

Prognosis

Phenotype severity distribution: 19 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:370997

GARD

Genetic and Rare Diseases Info Center

GARD:17608

Questions for Your Care Team

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muscle-eye-brain disease with bilateral multicystic leucodystrophy

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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