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GTR Home > Conditions/Phenotypes > Ehlers-danlos syndrome, arthrochalasia type, 2

Ehlers-danlos syndrome, arthrochalasia type, 2

Synonyms
EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT

Summary

Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008). For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see 130060. [from OMIM]

Available tests

25 tests are in the database for this condition.

Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EDSARTH2, EDSCV, OI4, COL1A2
    Summary: collagen type I alpha 2 chain

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