- Male infertility (HP:0003251, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 2/2. (PMID:14643120)
- Young adult onset (HP:0011462, a Human Phenotype Ontology term): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/2. (PMID:14643120)
- Recurrent spontaneous abortion (HP:0200067, a Human Phenotype Ontology term): Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference. Evidence: TAS. (OMIM:270960)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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:14643120)
- Azoospermia (HP:0000027, a Human Phenotype Ontology term): Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. Evidence: PCS. Frequency: 2/2. (PMID:14643120)
These phenotypes are associated with the disease spermatogenic failure 4 (OMIM:270960, an entry in Online Mendelian Inheritance in Man).