- 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: 3/3. (PMID:37804054;PMID:38091523)
- Coiled sperm flagella (HP:0032560): Sperm cells whose flagella are twisted (coiled). Evidence: PCS. Frequency: 1/1. (PMID:37804054)
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 3/3. (PMID:37804054;PMID:38091523)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 3/3. (PMID:37804054;PMID:38091523)
- Reduced sperm motility (HP:0012207): An abnormal reduction in the mobility of ejaculated sperm. Evidence: PCS. Frequency: 2/3. (PMID:37804054;PMID:38091523)
- 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:37804054)
- 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: 0/1. (PMID:37804054)
- Oligozoospermia (HP:0000798): Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. Evidence: PCS. Frequency: 0/3. (PMID:37804054;PMID:38091523)
- Absent sperm flagella (HP:0032558): Sperm cells lacking flagella. Evidence: PCS. Frequency: 0/1. (PMID:37804054)
- Short sperm flagella (HP:0032559): Sperm cells with abnormally short flagella. Evidence: PCS. Frequency: 1/1. (PMID:37804054)
These phenotypes are associated with the disease spermatogenic failure 92 (OMIM:620848).