- Coiled sperm flagella (HP:0032560): Sperm cells whose flagella are twisted (coiled). Evidence: PCS. Frequency: 1/1. (PMID:34172998)
- 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:34172998)
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 2/2. (PMID:34172998)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/2. (PMID:34172998)
- 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:34172998)
- Acephalic spermatozoa (HP:0012869): Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head. Evidence: PCS. Frequency: 1/1. (PMID:34172998)
- Globozoospermia (HP:0012205): Any structural anomaly of the acrosome resulting in a round sperm head. Evidence: PCS. Frequency: 1/1. (PMID:34172998)
These phenotypes are associated with the disease spermatogenic failure 85 (OMIM:620490).