Phenotypes associated with the disease spermatogenic failure 2 (OMIM:108420):
- Abnormal circulating follicle-stimulating hormone concentration (HP:0030346): An anomaly of the circulating level of follicle-stimulating hormone (FSH). Evidence: PCS. Frequency: 0/1. (PMID:33437391)
- Abnormal circulating luteinizing hormone concentration (HP:0030345): An anomaly of the circulating level of luteinizing hormone (LH). Evidence: PCS. Frequency: 0/1. (PMID:33437391)
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 1/1. (PMID:33437391)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/1. (PMID:33437391)
- Abnormal circulating testosterone concentration (HP:0030087): An anomalous concentration of testosterone in the blood. Evidence: PCS. Frequency: 0/1. (PMID:33437391)
- 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:33437391)
- Non-obstructive azoospermia (HP:0011961): Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. Evidence: PCS. Frequency: 1/1. (PMID:33437391)
- Oligozoospermia (HP:0000798): Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. Evidence: TAS. (OMIM:108420)
- Azoospermia (HP:0000027): Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. Evidence: TAS. (OMIM:108420)