- Altered location of the longitudinal column in the fibrous sheath (HP:0034947): The fibrous sheath is a structure in the midpiece of the sperm flagellum surrounding the outer dense fibers. It comprises two longitudinal columns and transverse ribs. In case of altered location of the longitudinal column in the fibrous sheath the symmetrical structure is lost, most commonly with the columns not being opposite to each other, which can be visualized by electron microscopy. Evidence: PCS. Frequency: 1/1. (PMID:36792588)
- 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: 1/1. (PMID:36792588)
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 1/1. (PMID:36792588)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/1. (PMID:36792588)
- 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:36792588)
- Reduced sperm motility (HP:0012207): An abnormal reduction in the mobility of ejaculated sperm. Evidence: PCS. Frequency: 1/1. (PMID:36792588)
These phenotypes are associated with the disease spermatogenic failure 83 (OMIM:620354).