Phenotypes associated with the disease spermatogenic failure 91 (OMIM:620838):
- Irregularly shaped sperm tail (HP:0033393): Irregular or changing caliber (diameter) along the tail of the sperm. Evidence: PCS. Frequency: 3/3. (PMID:36546111)
- 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: 2/4. (PMID:36546111;PMID:36527329)
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 5/5. (PMID:36546111;PMID:31985809;PMID:36527329)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 5/5. (PMID:36546111;PMID:31985809;PMID:36527329)
- Reduced sperm motility (HP:0012207): An abnormal reduction in the mobility of ejaculated sperm. Evidence: PCS. Frequency: 1/4. (PMID:36546111;PMID:36527329)
- 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:31985809)
- Oligozoospermia (HP:0000798): Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. Evidence: PCS. Frequency: 1/4. (PMID:36546111;PMID:31985809)
- Globozoospermia (HP:0012205): Any structural anomaly of the acrosome resulting in a round sperm head. Evidence: PCS. Frequency: 4/4. (PMID:36546111;PMID:31985809)