Phenotypes associated with the disease spermatogenic failure 13 (OMIM:615841):
- Abnormal circulating luteinizing hormone concentration (HP:0030345): An anomaly of the circulating level of luteinizing hormone (LH). Evidence: PCS. Frequency: 0/4. (PMID:24431330)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 4/4. (PMID:24431330)
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 3/4. (PMID:24431330)
- Elevated circulating follicle stimulating hormone level (HP:0008232): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: PCS. Frequency: 4/4. (PMID:24431330)
- Abnormal circulating testosterone concentration (HP:0030087): An anomalous concentration of testosterone in the blood. Evidence: PCS. Frequency: 0/4. (PMID:24431330)
- 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:2443133)
- Abnormal prolactin level (HP:0040086). Evidence: PCS. Frequency: 0/4. (PMID:24431330)
- Azoospermia (HP:0000027): Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. Evidence: PCS. Frequency: 3/4. (PMID:24431330)