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Deafness-infertility syndrome

Orpha number ORPHA94064
Synonym(s) DIS
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Adult
ICD-10
  • Q93.5
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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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