- Male infertility (HP:0003251). Evidence: PCS. Frequency: 2/2. (PMID:36321563)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/2. (PMID:36321563)
- Microcephalic sperm head (HP:0032561): Decreased size of the head of sperm. Evidence: PCS. Frequency: 2/2. (PMID:36321563)
- Tapered sperm head (HP:0032562): Sperm with cigar-shaped heads that gradually dimish in diameter (taper). Evidence: PCS. Frequency: 2/2. (PMID:36321563)
- 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:36321563)
- Repeated implantation failure (HP:0033712): Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles. Evidence: PCS. Frequency: 2/2. (PMID:36321563)
These phenotypes are associated with the disease spermatogenic failure 78 (OMIM:620170).