Phenotypes associated with the disease spermatogenic failure, X-linked, 2 (OMIM:309120, an entry in Online Mendelian Inheritance in Man):
- X-linked recessive inheritance (HP:0001419, a Human Phenotype Ontology term): 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:25970010)
- Male infertility (HP:0003251, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 7/7. (PMID:25970010)
- Young adult onset (HP:0011462, a Human Phenotype Ontology term): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 7/7. (PMID:25970010)
- Testicular atrophy (HP:0000029, a Human Phenotype Ontology term): Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility. Evidence: PCS. Frequency: 2/7. (PMID:25970010)
- Spermatogenesis maturation arrest (HP:0031038, a Human Phenotype Ontology term): 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: 5/5. (PMID:25970010)
- Azoospermia (HP:0000027, a Human Phenotype Ontology term): Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. Evidence: PCS. Frequency: 7/7. (PMID:25970010)