U.S. flag

An official website of the United States government

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

47 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (47 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

Help
Imported from Human Phenotype Ontology (HPO)

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.