Phenotypes associated with the disease spermatogenic failure 100 (OMIM:621209):
- Irregularly shaped sperm tail (HP:0033393): Irregular or changing caliber (diameter) along the tail of the sperm. Evidence: PCS. Frequency: 8/8. (PMID:40146200;PMID:39071892)
- Low semen volume (HP:6000135): Volume of semen in ejaculate below the lower limit of normal. This finding can be ascertained by semen analysis. Comment: Sperm are produced within the testis, in the process of spermatogenesis, then travel through the male reproductive tract (the seminiferous tubules, epididymis, vas deferens, prostate and urethra). As the sperm travel, seminal fluid is added from the seminal vesicles, prostate, testis and epididymis and periurethral glands. The function of the ejaculate is to transport sperm into the female genital tract and to provide a suitable environment for sperm survival during this transit. Evidence: PCS. Frequency: 0/11. (PMID:40146200;PMID:39071892)
- Coiled sperm flagella (HP:0032560): Sperm cells whose flagella are twisted (coiled). Evidence: PCS. Frequency: 7/8. (PMID:40146200;PMID:39071892)
- Reduced progressive sperm motility (HP:0034011): A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion. Evidence: PCS. Frequency: 11/11. (PMID:40146200;PMID:39071892)
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 4/4. (PMID:40146200;PMID:39071892)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 12/12. (PMID:40146200;PMID:39071892)
- Reduced sperm motility (HP:0012207): An abnormal reduction in the mobility of ejaculated sperm. Evidence: PCS. Frequency: 11/11. (PMID:40146200;PMID:39071892)
- 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:39071892)
- Bent sperm flagella (HP:0034811): The proportion of sperm cells whose flagella is sharply curved or has a sharp angle is above normal limits. Evidence: PCS. Frequency: 8/8. (PMID:40146200;PMID:39071892)
- Absent sperm flagella (HP:0032558): Sperm cells lacking flagella. Evidence: PCS. Frequency: 7/8. (PMID:40146200;PMID:39071892)
- Oligozoospermia (HP:0000798): Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. Evidence: PCS. Frequency: 3/11. (PMID:40146200;PMID:39071892)
- Short sperm flagella (HP:0032559): Sperm cells with abnormally short flagella. Evidence: PCS. Frequency: 8/8. (PMID:40146200;PMID:39071892)