Phenotypes associated with the disease spermatogenic failure 61 (OMIM:619672):
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 3/3. (PMID:31125047;PMID:32634216;PMID:31682730)
- 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:31125047)
- 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: 3/3. (PMID:31125047;PMID:32634216;PMID:31682730)
- Spermatocyte maturation arrest (HP:0031039): A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatocyte stage. Testicular histology shows seminiferous tubules with Sertoli cells, spermatogonial cells and spermatocytes but no further differentiated cells like round spermatids. Evidence: PCS. Frequency: 3/3. (PMID:31125047;PMID:32634216;PMID:31682730)