spermatogenic failure 10
MONDO:0013901Mondo
Findings
No curated finding names spermatogenic failure 10 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 SEPT12 gene.
Definition from the Mondo Disease Ontology (MONDO:0013901), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
4 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.
- Abnormal sperm morphologyHPOHP:0012864
- 2 of 2 reported patients
- Male infertilityHPOHP:0003251
- 2 of 2 reported patients
- OligozoospermiaHPOHP:0000798
- 1 of 2 reported patients
- Reduced sperm motilityHPOHP:0012207
- 1 of 2 reported patients
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.
- SEPTIN12HGNC:26348
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
3 names
Resolves to: spermatogenic failure 10
- Also called
- azoospermia caused by mutation in SEPT12SEPT12 azoospermiaspermatogenic failure type 10