spermatogenic failure 43
MONDO:0032898Mondo
Findings
No curated finding names spermatogenic failure 43 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
5 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.
- Absent sperm axoneme central pair complexHPOHP:0033525
- 3 of 3 reported patients
- Absent sperm flagellaHPOHP:0032558
- Male
- Coiled sperm flagellaHPOHP:0032560
- Male
- Male infertilityHPOHP:0003251
- Male
- Reduced sperm motilityHPOHP:0012207
- Male
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.
- SPEF2HGNC:26293
- Strong · Ambry Genetics · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of