- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:2410)
- Hypergonadotropic hypogonadism (HP:0000815): Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:2410)
- Decreased fertility (HP:0000144). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2410)
- Primary amenorrhea (HP:0000786). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2410)
- Delayed puberty (HP:0000823): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2410)
- Increased circulating gonadotropin level (HP:0000837): Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2410)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2410)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2410)
- Absence of secondary sex characteristics (HP:0008187): No secondary sexual characteristics are present at puberty. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2410)
- Secondary growth hormone deficiency (HP:0008240). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2410)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2410)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2410)
- Reduced bone mineral density (HP:0004349): A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2410)
These phenotypes are associated with the disease Hypergonadotropic hypogonadism-cataract syndrome (ORPHA:2410).