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GTR Home > Conditions/Phenotypes > Arthrogryposis, distal, type 2B2

Arthrogryposis, distal, type 2B2

Summary

Distal arthrogryposis type 2B2 (DA2B2) is characterized by congenital contractures of the distal limb joints and facial dysmorphism. Marked inter- and intrafamilial variability has been reported (summary by Daly et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see 108120. [from OMIM]

Available tests

7 tests are in the database for this condition.

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Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DA2B2, TNTF, beta-TnTF, TNNT3
    Summary: troponin T3, fast skeletal type

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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