- Male infertility (HP:0003251). Evidence: IEA. Frequency: 2/2. (PMID:31654588)
- Abnormal circulating testosterone concentration (HP:0030087): An anomalous concentration of testosterone in the blood. Evidence: PCS. Frequency: 0/2. (PMID:31654588)
- 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:31654588)
- Reduced sperm motility (HP:0012207): An abnormal reduction in the mobility of ejaculated sperm. Evidence: PCS. Frequency: 2/2. (PMID:31654588)
- Acephalic spermatozoa (HP:0012869): Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head. Evidence: PCS. Frequency: 2/2. (PMID:31654588)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: PCS. Frequency: 0/2. (PMID:31654588)
These phenotypes are associated with the disease spermatogenic failure 44 (OMIM:619044).