spermatogenic failure 14
MONDO:0014366Mondo
Findings
No curated finding names spermatogenic failure 14 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene.
Definition from the Mondo Disease Ontology (MONDO:0014366), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AzoospermiaHPOHP:0000027
- 3 of 3 reported patients
- Elevated circulating follicle stimulating hormone levelHPOHP:0008232
- 3 of 3 reported patients
- Male infertilityHPOHP:0003251
- 3 of 3 reported patients
- Round spermatid arrestHPOHP:0031040
- 3 of 3 reported patients
- Abnormal circulating luteinizing hormone concentrationHPOHP:0030345
- 0 of 3 reported patients
- Abnormal circulating testosterone concentrationHPOHP:0030087
- 0 of 3 reported patients
- Abnormal prolactin level
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:20997HGNC:20997
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: spermatogenic failure 14
- Also called
- azoospermia caused by mutation in ZMYND15spermatogenic failure type 14ZMYND15 azoospermia