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GTR Home > Conditions/Phenotypes > Spermatogenic failure 7

Spermatogenic failure 7

Synonyms
CATSPER-Related Male Infertility; MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE

Summary

CATSPER-related male infertility results from abnormalities in sperm and can be either CATSPER-related nonsyndromic male infertility (NSMI) or the deafness-infertility syndrome (DIS) when associated with non-progressive prelingual sensorineural hearing loss. Males with NSMI have infertility while females have no symptoms. Males with DIS have both infertility and hearing loss, while females have only hearing loss. Routine semen analysis typically identifies abnormalities in sperm number, morphology, and motility. Otologic examination and audiologic assessment can identify hearing loss. [from GeneReviews]

Available tests

16 tests are in the database for this condition.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CATSPER, SPGF7, CATSPER1
    Summary: cation channel sperm associated 1

  • Also known as: , CATSPER2
    Summary: cation channel sperm associated 2

  • Also known as: DFNB16, STRC
    Summary: stereocilin

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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