- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/2. (PMID:20506135)
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 2/2. (PMID:20506135)
- Sertoli cell-only phenotype (HP:0034299): A histological phenotype observed on testicular biopsy in which only Sertoli cells line the seminiferous tubules of the testis. Evidence: PCS. Frequency: 2/2. (PMID:20506135)
- Non-obstructive azoospermia (HP:0011961): Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. Evidence: PCS. Frequency: 2/2. (PMID:20506135)
- 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:20506135)
These phenotypes are associated with the disease spermatogenic failure 32 (OMIM:618115).