- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:231720)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:231720)
- Decreased response to growth hormone stimulation test (HP:0000824): Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:231720)
- Thoracolumbar kyphoscoliosis (HP:0003423). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:231720)
- 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:231720)
- Gonadotropin deficiency (HP:0008213): A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:231720)
- Pituitary hypothyroidism (HP:0008245): A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:231720)
- Anterior pituitary hypoplasia (HP:0010627): Underdevelopment of the anterior pituitary gland. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:231720)
- Adrenocorticotropic hormone deficiency (HP:0011748): A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:231720)
- Hypothalamic luteinizing hormone-releasing hormone deficiency (HP:0012287): Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:231720)
These phenotypes are associated with the disease Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome (ORPHA:231720).