Phenotypes associated with the disease spermatogenic failure 99 (OMIM:621194, an entry in Online Mendelian Inheritance in Man):
- 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:36135717)
- Male infertility (HP:0003251, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 2/2. (PMID:36135717)
- 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:36135717)
- 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:36135717)
- Thin spermatozoon midpiece (HP:0035007, a Human Phenotype Ontology term): The cross-sectional size (diameter) of the midpiece of the spermatozoon is below the lower limit of normal. This term applies if the proportion of spermatozoa with this defect is above the upper limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:36135717)
- 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: 2/2. (PMID:36135717)