Phenotypes associated with the disease Hypogonadism-mitral valve prolapse-intellectual disability syndrome (ORPHA:2233):
- Abnormal testis morphology (HP:0000035): An anomaly of the testicle (the male gonad). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2233)
- Hypogonadism (HP:0000135): A decreased functionality of the gonad. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2233)
- Decreased fertility (HP:0000144). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2233)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2233)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2233)
- Gynecomastia (HP:0000771): Abnormal development of large mammary glands in males resulting in breast enlargement. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2233)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2233)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2233)
- Low posterior hairline (HP:0002162): Hair on the neck extends more inferiorly than usual. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2233)
- 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:2233)
- Abnormal metacarpal morphology (HP:0005916): Any abnormal shape or structure of the metacarpal bones. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2233)
- Abnormal hair quantity (HP:0011362): An abnormal amount of hair. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2233)
- Abnormal morphology of ulna (HP:0040071): Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2233)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2233)
- Mitral valve prolapse (HP:0001634): One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2233)