muscle-eye-brain disease with bilateral multicystic leucodystrophy
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.
MONDO:0018276
muscular dystrophy-dystroglycanopathy
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MONDO:0018869
cobblestone lissencephaly
is_a
MEB disease with bilateral multicystic leucodystrophy
exact