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GTR Home > Conditions/Phenotypes > Arthrogryposis, distal, type 2B3

Arthrogryposis, distal, type 2B3

Synonyms
Arthrogryposis, distal, type 2B3 (Sheldon-Hall)

Summary

Distal arthrogryposis type 2B3 (DA2B3) is characterized by facial dysmorphism and congenital joint contractures with predominantly distal involvement. Some patients exhibit muscle weakness (Tajsharghi et al., 2008). Considerable inter- and intrafamilial variability has been reported (Xu et al., 2018). [from OMIM]

Available tests

8 tests are in the database for this condition.

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Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CPSFS1A, CPSFS1B, CPSKF1A, CPSKF1B, DA2A, DA2B, DA2B3, DA8, HEMHC, MYHC-EMB, MYHSE1, SMHCE, MYH3
    Summary: myosin heavy chain 3

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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