Although dystroglycanopathies and GPR56-related encephalopathy are also characterized by cerebellar cysts, PTBHS can be confirmed via neuroimaging (cortical malformation such as polymicrogyria) and symptom evaluation (muscle weakness and severe epilepsy) [8, 9]. This evidence concerns the gene ADGRG1 and neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan.