GTR Home > Conditions/Phenotypes > Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3

Summary

MDDGB3 is an autosomal recessive congenital muscular dystrophy with mental retardation and mild brain abnormalities (Clement et al., 2008). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155). [from OMIM]

Available tests

49 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: GNTI.2, GnT I.2, LGMD2O, MEB, MGAT1.2, RP76, gnT-I.2, POMGNT1
    Summary: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

Clinical features

Help

Show allHide all

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.

Support Center