- Infertility (HP:0000789). Evidence: PCS. (PMID:23315541)
- Abnormal male germ cell morphology (HP:0012863): A structural anomaly of a male reproductive cell. Evidence: PCS. (PMID:23315541)
- 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:23315541)
- Azoospermia (HP:0000027): Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. Evidence: PCS. (PMID:23315541)
These phenotypes are associated with the disease spermatogenic failure 12 (OMIM:615413).