- Phenotypic abnormality (HP:0000118): A phenotypic abnormality. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:399808)
- Increased circulating gonadotropin level (HP:0000837): Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:399808)
- Abnormal spermatogenesis (HP:0008669): Incomplete maturation or aberrant formation of the male gametes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:399808)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:399808)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:399808)
- Globozoospermia (HP:0012205): Any structural anomaly of the acrosome resulting in a round sperm head. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:399808)
- Abnormal sperm morphology (HP:0012864): A structural anomaly of sperm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:399808)
- Abnormal sperm tail morphology (HP:0012868): A structural abnormality of the sperm tail. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:399808)
These phenotypes are associated with the disease Male infertility with teratozoospermia due to single gene mutation (ORPHA:399808).