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Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with cerebellar involvement is a rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscule weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies.
ORPHA:370959Classification level: Disorder
Article for general public
- Clinical genetics review
- English (2012)