- Multiflagellar spermatozoa (HP:0034309, a Human Phenotype Ontology term): Spermatozoa with multiple flagella attached to the sperm head. Evidence: PCS. Frequency: 3/4. (PMID:36150389)
- Abnormal circulating luteinizing hormone concentration (HP:0030345, a Human Phenotype Ontology term): An anomaly of the circulating level of luteinizing hormone (LH). Evidence: PCS. Frequency: 0/6. (PMID:36150389)
- 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: 6/6. (PMID:36150389)
- Male infertility (HP:0003251, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 6/6. (PMID:36150389)
- Elevated circulating follicle stimulating hormone level (HP:0008232, a Human Phenotype Ontology term): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: PCS. Frequency: 6/6. (PMID:36150389)
- Abnormal circulating testosterone concentration (HP:0030087, a Human Phenotype Ontology term): An anomalous concentration of testosterone in the blood. Evidence: PCS. Frequency: 0/6. (PMID:36150389)
- 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:36150389)
- 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: 5/6. (PMID:36150389)
- Cryptorchidism (HP:0000028, a Human Phenotype Ontology term): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 2/6. (PMID:36150389)
- Azoospermia (HP:0000027, a Human Phenotype Ontology term): Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. Evidence: PCS. Frequency: 1/6. (PMID:36150389)
These phenotypes are associated with the disease spermatogenic failure 77 (OMIM:620103, an entry in Online Mendelian Inheritance in Man).