Phenotypes associated with the disease spermatogenic failure 71 (OMIM:619831):
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 4/4. (PMID:32719396;PMID:33713115)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 4/4. (PMID:32719396;PMID:33713115)
- Sertoli cell-only phenotype (HP:0034299): A histological phenotype observed on testicular biopsy in which only Sertoli cells line the seminiferous tubules of the testis. Evidence: PCS. Frequency: 2/2. (PMID:32719396)
- 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:32719396)
- 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: 4/4. (PMID:32719396;PMID:33713115)