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disease: Deafness-infertility syndrome

id1236
nameDeafness-infertility syndrome
descriptionCATSPER-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.
variant-disease del(15)(q15.1-q15.3) AND Deafness-infertility syndrome
NC_000015.9:g.43890409_43939642del49234 AND Deafness-infertility syndrome
NC_000015.10:g.(?_43638998)_(43639062_?)del AND multiple conditions
NM_153700.2(STRC):c.4219-1G>A AND multiple conditions