- Male infertility (HP:0003251, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 2/2. (PMID:28548327)
- 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:28548327)
- Autosomal recessive inheritance (HP:0000007, 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 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:28548327)
- Reduced sperm motility (HP:0012207, a Human Phenotype Ontology term): An abnormal reduction in the mobility of ejaculated sperm. Evidence: PCS. Frequency: 2/2. (PMID:28548327)
These phenotypes are associated with the disease spermatogenic failure 55 (OMIM:619380, an entry in Online Mendelian Inheritance in Man).