Phenotypes associated with the disease Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome (ORPHA:1014):
- 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: Very frequent (HP:0040281). (ORPHA:1014)
- 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:1014)
- Alopecia totalis (HP:0007418): Loss of all scalp hair. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1014)