Phenotypes associated with the disease Xp22.3 microdeletion syndrome (ORPHA:1643):
- Hypogonadotropic hypogonadism (HP:0000044): Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1643)
- Decreased fertility (HP:0000144). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1643)
- Polycystic ovaries (HP:0000147). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1643)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1643)
- Secondary amenorrhea (HP:0000869). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1643)
- Sacral dimple (HP:0000960): A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1643)
- Abnormality of chromosome segregation (HP:0002916): An abnormality of chromosome segregation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1643)
- 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: Very frequent (HP:0040281). (ORPHA:1643)
- Ectopic anus (HP:0004397): Abnormal displacement or malposition of the anus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1643)
- Opacification of the corneal stroma (HP:0007759): Reduced transparency of the stroma of cornea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1643)
- Aplasia/Hypoplasia affecting the eye (HP:0008056). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1643)
- Aplasia/Hypoplasia of the skin (HP:0008065). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1643)