spermatogenic failure 57
MONDO:0030439Mondo
Findings
No curated finding names spermatogenic failure 57 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive 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.
- Decreased testicular sizeHPOHP:0008734
- 4 of 4 reported patients
- Male infertilityHPOHP:0003251
- 4 of 4 reported patients
- Non-obstructive azoospermiaHPOHP:0011961
- 4 of 4 reported patients
- Spermatogenesis maturation arrestHPOHP:0031038
- 4 of 4 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.
- PNLDC1HGNC:21185
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: spermatogenic failure 57
- Also called
- SPGF57