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Deafness-infertility syndrome

Synonym(s) DIS
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
  • Q93.5
MeSH -
MedDRA -


Disease definition

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.

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Detailed information

Clinical genetics review
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