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Deafness-infertility syndrome
1 OMIM reference -
2 associated genes
1 connected disease
4 signs/symptoms
Disease Type of connection
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Synonym(s):
- DIS
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare infertility
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CATSPER2 Q96P56607249
STRC Q7RTU9606440
Very frequent
- Autosomal recessive inheritance
- Azoospermia / oligospermia / asthenospermia
- Insterstitial / subtelomeric microdeletion / deletion
- Sensorineural deafness / hearing loss