Phenotypes associated with the disease spermatogenic failure 46 (OMIM:619095):
- Irregularly shaped sperm tail (HP:0033393): Irregular or changing caliber (diameter) along the tail of the sperm. Evidence: PCS. Frequency: 4/4. (PMID:32619401;PMID:32681648)
- Coiled sperm flagella (HP:0032560): Sperm cells whose flagella are twisted (coiled). Evidence: PCS. Frequency: 4/4. (PMID:32619401;PMID:32681648)
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 4/4. (PMID:32619401;PMID:32681648)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 3/3. (PMID:32619401)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:32619401)
- Reduced sperm motility (HP:0012207): An abnormal reduction in the mobility of ejaculated sperm. Evidence: PCS. Frequency: 4/4. (PMID:32619401;PMID:32681648)
- Absent sperm flagella (HP:0032558): Sperm cells lacking flagella. Evidence: PCS. Frequency: 1/1. (PMID:32681648)
- Short sperm flagella (HP:0032559): Sperm cells with abnormally short flagella. Evidence: PCS. Frequency: 4/4. (PMID:32619401;PMID:32681648)