Phenotypes associated with the disease spermatogenic failure 84 (OMIM:620409, an entry in Online Mendelian Inheritance in Man):
- Irregularly shaped sperm tail (HP:0033393, a Human Phenotype Ontology term): Irregular or changing caliber (diameter) along the tail of the sperm. Evidence: PCS. Frequency: 9/9. (PMID:35174165)
- 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: 10/11. (PMID:35174165)
- Coiled sperm flagella (HP:0032560, a Human Phenotype Ontology term): Sperm cells whose flagella are twisted (coiled). Evidence: PCS. Frequency: 9/9. (PMID:35174165)
- Male infertility (HP:0003251, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 12/12. (PMID:34792097;PMID:35174165)
- 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: 12/12. (PMID:34792097;PMID:35174165)
- 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:34792097)
- Reduced sperm motility (HP:0012207, a Human Phenotype Ontology term): An abnormal reduction in the mobility of ejaculated sperm. Evidence: PCS. Frequency: 10/11. (PMID:35174165)
- Bent sperm flagella (HP:0034811, a Human Phenotype Ontology term): The proportion of sperm cells whose flagella is sharply curved or has a sharp angle is above normal limits. Evidence: PCS. Frequency: 9/9. (PMID:35174165)
- 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: 10/11. (PMID:35174165)
- Absent sperm flagella (HP:0032558, a Human Phenotype Ontology term): Sperm cells lacking flagella. Evidence: PCS. Frequency: 9/9. (PMID:35174165)
- Short sperm flagella (HP:0032559, a Human Phenotype Ontology term): Sperm cells with abnormally short flagella. Evidence: PCS. Frequency: 9/9. (PMID:35174165)