- Neonatal hypoglycemia (HP:0001998). Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:199296)
- Decreased circulating cortisol level (HP:0008163): Abnormally reduced concentration of cortisol in the blood. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:199296)
- Adrenocorticotropin deficient adrenal insufficiency (HP:0011735): Adrenal insufficiency secondary to a defect in ACTH production. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:199296)
- Adrenal hypoplasia (HP:0000835): Developmental hypoplasia of the adrenal glands. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199296)
- Hypotension (HP:0002615): Low Blood Pressure, vascular hypotension. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199296)
- Hyponatremia (HP:0002902): The concentration of sodium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199296)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199296)
- Hypoglycemic seizures (HP:0002173). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199296)
- Prolonged neonatal jaundice (HP:0006579): Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199296)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199296)
These phenotypes are associated with the disease Congenital isolated ACTH deficiency (ORPHA:199296).
The following phenotypes are NOT associated with this disease:
- Hyperkalemia (HP:0002153): The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. Evidence: TAS. (ORPHA:199296)