Muscle-eye-brain disease with bilateral multicystic leucodystrophy

MONDO:0018280

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.

Also known as: MEB disease with bilateral multicystic leucodystrophy

5 clinical trials for this condition and its sub-types, 0 tagged with Muscle-eye-brain disease with bilateral multicystic leucodystrophy itself.

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↑ Muscular dystrophy-dystroglycanopathy (1) ↑ Cobblestone lissencephaly (0)

Including sub-types (5) Tagged with Muscle-eye-brain disease with bilateral multicystic leucodystrophy (0)

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