Phenotypes associated with the disease Isochromosomy Yq syndrome (ORPHA:98798):
- Azoospermia (HP:0000027): Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98798)
- Ambiguous genitalia (HP:0000062): A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98798)
- Gynecomastia (HP:0000771): Abnormal development of large mammary glands in males resulting in breast enlargement. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98798)
- Gonadal tissue inappropriate for external genitalia or chromosomal sex (HP:0003248). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98798)
- Male infertility (HP:0003251). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98798)
- Primary gonadal insufficiency (HP:0008193). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98798)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98798)
- Varicocele (HP:0012871): A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98798)