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GTR Home > Conditions/Phenotypes > Heterotaxy, visceral, 7, autosomal

Summary

Autosomal visceral heterotaxy-7 is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). [from OMIM]

Available tests

14 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: HTX7, MMP-21, MMP21
    Summary: matrix metallopeptidase 21

Clinical features

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