- Coiled sperm flagella (HP:0032560): Sperm cells whose flagella are twisted (coiled). Evidence: PCS. (PMID:31413122)
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 3/3. (PMID:31413122)
- 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:28552195)
- Immotile sperm (HP:0012208): A lack of mobility of ejaculated sperm. Evidence: PCS. Frequency: 3/3. (PMID:31413122)
- Oligozoospermia (HP:0000798): Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. Evidence: PCS. Frequency: 3/3. (PMID:31413122)
- Absent sperm flagella (HP:0032558): Sperm cells lacking flagella. Evidence: PCS. (PMID:31413122)
- Short sperm flagella (HP:0032559): Sperm cells with abnormally short flagella. Evidence: PCS. (PMID:31413122)
These phenotypes are associated with the disease spermatogenic failure 40 (OMIM:618664).