spermatogenic failure 9
MONDO:0013505Mondo
Findings
No curated finding names spermatogenic failure 9 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 DPY19L2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013505), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
2 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.
- GlobozoospermiaHPOHP:0012205
- 7 of 7 reported patients
- Male infertilityHPOHP:0003251
- 7 of 7 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.
- DPY19L2HGNC:19414
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: spermatogenic failure 9
- Also called
- azoospermia caused by mutation in DPY19L2DPY19L2 azoospermiaspermatogenic failure type 9