ADGRG1 and ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome: 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].