- Male infertility (HP:0003251). Evidence: PCS. Frequency: 7/7. (PMID:17047026)
- Reduced sperm motility (HP:0012207): An abnormal reduction in the mobility of ejaculated sperm. Evidence: PCS. Frequency: 4/7. (PMID:17047026)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:17047026)
- Oligozoospermia (HP:0000798): Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. Evidence: PCS. Frequency: 7/7. (PMID:17047026)
- Abnormal sperm morphology (HP:0012864): A structural anomaly of sperm. Evidence: PCS. Frequency: 5/7. (PMID:17047026)
These phenotypes are associated with the disease spermatogenic failure 11 (OMIM:615081).