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Male infertility with azoospermia or oligozoospermia due to single gene mutation
Disease definition
A rare, genetic male infertility due to a sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.
ORPHA:399805
Classification level: Disorder- Synonym(s): -
- Prevalence: -
- Inheritance: Autosomal recessive or X-linked recessive or Autosomal dominant
- Age of onset: -
- ICD-10: N46
- OMIM: 108420 258150 270960 305700 309120 399805 613957 615081 615413 615841 615842 616950 617706 617707 617960 618086 618110 618115 619108 619202 619379 619380 619515 619528 619585 619645 619646 619672 619673 619689 619696 619712 619799 619803 619805 619826 619828 619867 619878 619937 619949 620084 620103 620170 620196 620222
- UMLS: -
- MeSH: -
- GARD: 8530
- MedDRA: -
A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)
Additional information
Further information on this disease
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