GTR Home > Conditions/Phenotypes > Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2


MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) (Godfrey et al., 2007). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155). [from OMIM]

Available tests

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Associated genes

Clinical features

  • Strabismus
  • Hyporeflexia
  • Areflexia
  • Respiratory insufficiency
  • Intellectual disability
  • Generalized muscle weakness
  • Left ventricular hypertrophy
  • Microcephaly
  • Hypoplasia of the corpus callosum
  • Open mouth
  • Muscular dystrophy
  • Cryptorchidism
  • Micropenis
  • Macroglossia
  • Myopia
  • Pigmentary retinopathy
  • Muscular hypotonia
  • Motor delay
  • Cerebellar hypoplasia
  • Flexion contracture
  • Ventriculomegaly
  • Cerebral cortical atrophy
  • Scoliosis
  • Hip dislocation
  • Elevated serum creatine phosphokinase
  • Hyperlordosis
  • Proximal muscle weakness
  • Facial palsy
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