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GTR Home > Conditions/Phenotypes > Vas deferens, congenital bilateral aplasia of, X-linked

Vas deferens, congenital bilateral aplasia of, X-linked

Synonyms
Congenital bilateral absence of vas deferens, X-linked

Summary

Congenital bilateral absence of the vas deferens (CBAVD) is found in more than 25% of men with obstructive azoospermia, involving a complete or partial defect of the Wolffian duct derivatives. In 80% of men with CBAVD (see 277180), mutations are identified in the CFTR gene (602421). The forms caused by mutations in the CFTR and ADGRG2 genes are clinically indistinguishable (summary by Patat et al., 2016). [from OMIM]

Available tests

6 tests are in the database for this condition.

Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CBAVDX, EDDM6, GPR64, HE6, TM7LN2, ADGRG2
    Summary: adhesion G protein-coupled receptor G2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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