- Male infertility (HP:0003251). Evidence: PCS. Frequency: 3/3. (PMID:33626338)
- Tapered sperm head (HP:0032562): Sperm with cigar-shaped heads that gradually dimish in diameter (taper). Evidence: PCS. Frequency: 3/3. (PMID:33626338)
- 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:33626338)
These phenotypes are associated with the disease spermatogenic failure 53 (OMIM:619258).