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GTR Home > Conditions/Phenotypes > Autosomal recessive limb-girdle muscular dystrophy type 2P

Autosomal recessive limb-girdle muscular dystrophy type 2P

Synonyms
Limb-Girdle Muscular Dystrophy Type 9C; Limb-girdle muscular dystrophy-dystroglycanopathy, type C9; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

MDDGC9 is an autosomal recessive muscular dystrophy showing onset in early childhood. It is part of a group of similar disorders resulting from defective glycosylation of DAG1, collectively known as 'dystroglycanopathies' (summary by Hara et al., 2011). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308). [from OMIM]

Available tests

53 tests are in the database for this condition.

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Clinical tests (53 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 156DAG, A3a, AGRNR, DAG, LGMDR16, MDDGA9, MDDGC7, MDDGC9, DAG1
    Summary: dystroglycan 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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