- Reduced progressive sperm motility (HP:0034011): A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion. Evidence: PCS. Frequency: 2/2. (PMID:36708031)
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 2/2. (PMID:36708031)
- 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:36708031)
- Multiple non-erupting secondary teeth (HP:0006321). Evidence: PCS. Frequency: 2/2. (PMID:36708031)
- Oligozoospermia (HP:0000798): Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. Evidence: PCS. Frequency: 2/2. (PMID:36708031)
- Acrosomal hypoplasia (HP:0034913): Reduction in the size of the acrosome of the head of spermatozoa. Evidence: PCS. Frequency: 2/2. (PMID:36708031)
These phenotypes are associated with the disease spermatogenic failure 81 (OMIM:620277).