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

Summary

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

40 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes for additional relevant tests.

Associated genes

Clinical features

Help
  • 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
Show all (28)

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk