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.
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muscular dystrophy-dystroglycanopathy, type A
MONDO:0000171
muscular dystrophy-dystroglycanopathy, type B
MONDO:0000172
muscular dystrophy-dystroglycanopathy, type C
MONDO:0000173
DPM3-congenital disorder of glycosylation
MONDO:0013049
congenital muscular dystrophy with intellectual disability and severe epilepsy
MONDO:0014023
cobblestone lissencephaly without muscular or ocular involvement
MONDO:0014077