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GTR Home > Conditions/Phenotypes > 46,XY sex reversal 1

46,XY sex reversal 1

Synonyms
46,XY SEX REVERSAL, SRY-RELATED; SRY-related 46,XY complete gonadal dysgenesis

Summary

Sex reversal in an individual with 46,XY karyotype caused by point mutations or deletions in the SRY gene, encoding sex-determining region Y protein. [from NCI]

Available tests

32 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (32 available)

Cytogenetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SRXX1, SRXY1, TDF, TDY, SRY
    Summary: sex determining region Y

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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