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GTR Home > Conditions/Phenotypes > Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4

Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4

Synonyms
FKTN-Related Muscle Diseases; MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 4

Summary

MDDGB4 is a rare autosomal recessive congenital muscular dystrophy that is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies.' In contrast to most dystroglycanopathies, impaired intellectual development is not a feature of MDDGB4 (Godfrey et al., 2007). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155). [from OMIM]

Available tests

102 tests are in the database for this condition.

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Clinical tests (102 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMD1X, FCMD, LGMD2M, LGMDR13, MDDGA4, MDDGB4, MDDGC4, FKTN
    Summary: fukutin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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