Phenotypes associated with the disease azoospermia, obstructive, with nephrolithiasis (OMIM:301060):
- Spermatocele (HP:0033808): A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily. Evidence: PCS. Frequency: 3/3. (PMID:31320686)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:31320686)
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 9/9. (PMID:31320686)
- Obstructive azoospermia (HP:0011962): Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. Evidence: PCS. Frequency: 3/3. (PMID:31320686)
- Kidney stone (HP:0000787): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: PCS. Frequency: 3/3. (PMID:31320686)