Variants
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Deafness-infertility syndrome

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Description

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.

GeneReviews

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

2

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Genes

External Links

  • OMIM

    611102

  • Orphanet

    94064

  • HPO
  • Medgen

    C1970187

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