" /> Deafness-infertility syndrome - CISMeF





Preferred Label : Deafness-infertility syndrome;

Symbol : DIS;

CISMeF acronym : DIS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Deafness, sensorineural, and male infertility; Chromosome 15q15.3 deletion syndrome;

Inheritance : Autosomal recessive;

Molecular basis : A contiguous gene syndrome caused by deletion of the stereocilin gene (STRC, 606440) and the sperm-associated cation channel-2 gene (CATSPER2, 607249) gene;

Prefixed ID : #611102;

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27/07/2025


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