- Male infertility (HP:0003251). Evidence: PCS. Frequency: 2/2. (PMID:32923619)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 3/3. (PMID:34727571;PMID:32923619)
- 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:32923619)
- 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: 1/1. (PMID:34727571)
- Ruffled acrosome (HP:6000501): An irregular wavy appearance of sperm acrosomes. Evidence: PCS. Frequency: 2/2. (PMID:32923619)
- Acrosomal hypoplasia (HP:0034913): Reduction in the size of the acrosome of the head of spermatozoa. Evidence: PCS. Frequency: 1/1. (PMID:34727571)
- Abnormal sperm head morphology (HP:0012865): A structural abnormality of the sperm head. Evidence: PCS. Frequency: 2/2. (PMID:32923619)
These phenotypes are associated with the disease spermatogenic failure 86 (OMIM:620499).