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Ullrich congenital muscular dystrophy 2

Summary

Ullrich congenital muscular dystrophy-2 (UCMD2) is a severe autosomal recessive disorder characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation (summary by Zou et al., 2014). For a discussion of genetic heterogeneity of Ullrich congenital muscular dystrophy, see UCMD1A (254090). [from OMIM]

Available tests

26 tests are in the database for this condition.

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Clinical tests (26 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BA209D8.1, BTHLM2, COL12A1L, DJ234P15.1, EDSMYP, UCMD2, COL12A1
    Summary: collagen type XII alpha 1 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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