spermatogenic failure 46
MONDO:0033673Mondo
Findings
No curated finding names spermatogenic failure 46 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
- Adult onset
HPO, annotations 2026-09-02
Features
6 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 flagellaHPOHP:0032558
- 1 of 1 reported patient
- Coiled sperm flagellaHPOHP:0032560
- 4 of 4 reported patients
- Irregularly shaped sperm tailHPOHP:0033393
- 4 of 4 reported patients
- Male infertilityHPOHP:0003251
- 4 of 4 reported patients
- Reduced sperm motilityHPOHP:0012207
- 4 of 4 reported patients
- Short sperm flagellaHPOHP:0032559
- 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.
- DNAH8HGNC:2952
- Strong · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: spermatogenic failure 46
- Also called
- SPGF46