Phenotypes associated with the disease spermatogenic failure 60 (OMIM:619646):
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 4/4. (PMID:33211200;PMID:32741963)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/2. (PMID:32741963)
- 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:32741963)
- Spermatogenesis maturation arrest (HP:0031038): Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa. Evidence: PCS. Frequency: 3/3. (PMID:33211200;PMID:32741963)
- 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:33211200;PMID:32741963)