- Male infertility (HP:0003251). Evidence: PCS. Frequency: 3/3. (PMID:17847006)
- Autosomal recessive inheritance (HP:0000007): 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:17847006)
- Decreased acrosin in sperm head (HP:0031136): A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process. Evidence: PCS. (PMID:17847006)
- Globozoospermia (HP:0012205): Any structural anomaly of the acrosome resulting in a round sperm head. Evidence: PCS. Frequency: 3/3. (PMID:17847006)
These phenotypes are associated with the disease spermatogenic failure 6 (OMIM:102530).