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GTR Home > Conditions/Phenotypes > Heterotaxy, visceral, 10, autosomal, with male infertility

Heterotaxy, visceral, 10, autosomal, with male infertility

Summary

Visceral heterotaxy-10 (HTX10) is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis. Affected individuals may experience mild chronic respiratory symptoms, but do not fulfill the criteria for primary ciliary dyskinesia (see 244400). Male infertility has been reported (Ta-Shma et al., 2015; Dougherty et al., 2020). For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: HTX10, WDR16, WDRPUH, CFAP52
    Summary: cilia and flagella associated protein 52

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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