Phenotypes associated with the disease spermatogenic failure 80 (OMIM:620222, an entry in Online Mendelian Inheritance in Man):
- Coiled sperm flagella (HP:0032560, a Human Phenotype Ontology term): Sperm cells whose flagella are twisted (coiled). Evidence: PCS. Frequency: 2/2. (PMID:34169321)
- Reduced progressive sperm motility (HP:0034011, a Human Phenotype Ontology term): 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:34169321)
- Male infertility (HP:0003251, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 2/2. (PMID:34169321)
- Young adult onset (HP:0011462, a Human Phenotype Ontology term): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/2. (PMID:34169321)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:34169321)
- Absent sperm flagella (HP:0032558, a Human Phenotype Ontology term): Sperm cells lacking flagella. Evidence: PCS. Frequency: 2/2. (PMID:34169321)
- Oligozoospermia (HP:0000798, a Human Phenotype Ontology term): Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. Evidence: PCS. Frequency: 2/2. (PMID:34169321)
- Short sperm flagella (HP:0032559, a Human Phenotype Ontology term): Sperm cells with abnormally short flagella. Evidence: PCS. Frequency: 2/2. (PMID:34169321)