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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 94064
Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.
It has been reported in fewer than 5 families.
Male infertility is caused by abnormal spermatozoid morphology and motility. DIS is due to a contiguous gene deletion at chromosome 15q15.3 including 2 genes CATSPER2 and STRC , and is inherited in an autosomal recessive manner: affected males are homozygous for the deletion, parents are asymptomatic carriers and homozygous females are deaf but not infertile.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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