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GTR Home > Conditions/Phenotypes > Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14

Synonyms
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14; MUSCULAR DYSTROPHY, CONGENITAL, GMPPB-RELATED; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14

Summary

MDDGB14 is an autosomal recessive congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and impaired intellectual development. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Carss et al., 2013). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155). [from OMIM]

Available tests

30 tests are in the database for this condition.

Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LGMDR19, MDDGA14, MDDGB14, MDDGC14, GMPPB
    Summary: GDP-mannose pyrophosphorylase B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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