- Cholestasis (HP:0001396): Impairment of bile flow due to obstruction in bile ducts. Evidence: IEA. (OMIM:201400)
- Decreased circulating cortisol level (HP:0008163): Abnormally reduced concentration of cortisol in the blood. Evidence: IEA. (OMIM:201400)
- 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. (OMIM:201400)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: IEA. (OMIM:201400)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: IEA. (OMIM:201400)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:201400)
- Fasting hypoglycemia (HP:0003162). Evidence: IEA. (OMIM:201400)
- Adrenal hypoplasia (HP:0000835): Developmental hypoplasia of the adrenal glands. Evidence: IEA. (OMIM:201400)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: IEA. (OMIM:201400)
These phenotypes are associated with the disease congenital isolated adrenocorticotropic hormone deficiency (OMIM:201400).