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Congenital muscular dystrophy with cerebellar involvement

Disease definition

Congenital muscular dystrophy with cerebellar involvement is 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.

ORPHA:370959

Classification level: Disorder
  • Synonym(s):
    • CMD with cerebellar involvement
    • CMD-CRB
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: G71.2
  • OMIM: 606612  613151  613155  613156  615351
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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