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Items: 3

1.

Spermatogenic failure 7

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]

MedGen UID:
414478
Concept ID:
C2751811
Disease or Syndrome
2.

Deafness-infertility syndrome

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]

MedGen UID:
370197
Concept ID:
C1970187
Disease or Syndrome
3.

Autosomal recessive nonsyndromic hearing loss 16

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene. [from MONDO]

MedGen UID:
350211
Concept ID:
C1863561
Disease or Syndrome
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