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GTR Home > Conditions/Phenotypes > Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

Synonyms
MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2

Summary

MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with impaired intellectual development 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

59 tests are in the database for this condition.

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Clinical tests (59 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LGMD2N, LGMDR14, MDDGA2, MDDGB2, MDDGC2, POMT2
    Summary: protein O-mannosyltransferase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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