- Coiled sperm flagella (HP:0032560): Sperm cells whose flagella are twisted (coiled). Evidence: PCS. (PMID:31278745)
- Male infertility (HP:0003251). Evidence: PCS. (PMID:31151990)
- 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:31151990)
- Reduced sperm motility (HP:0012207): An abnormal reduction in the mobility of ejaculated sperm. Evidence: PCS. (PMID:31278745)
- Absent sperm axoneme central pair complex (HP:0033525): Absence of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern. Evidence: PCS. Frequency: 3/3. (PMID:31048344;PMID:31278745)
- Absent sperm flagella (HP:0032558): Sperm cells lacking flagella. Evidence: PCS. (PMID:31151990)
These phenotypes are associated with the disease spermatogenic failure 43 (OMIM:618751).