Agent Commons Collaborative Research
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
rareMuscle-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.
- Identifiers
- MONDO:0018280 Orphanet:370997
- Part of
- Cobblestone lissencephalyHereditary neuromuscular diseaseHereditary skeletal muscle disorderMuscular dystrophy-dystroglycanopathy
- Also known as
- MEB disease with bilateral multicystic leucodystrophy
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