A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscle weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies. The disease or phenotype is congenital muscular dystrophy with cerebellar involvement (EFO_0700084). Also known as: CMD with cerebellar involvement, CMD-CRB.