- Orthostatic hypotension (HP:0001278): A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. Evidence: IEA. (OMIM:610600)
- Hyperkalemia (HP:0002153): The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. Evidence: IEA. Frequency: 1/1. (PMID:9625333)
- Increased circulating renin concentration (HP:0000848): An increased level of renin in the blood. Evidence: IEA. (OMIM:610600)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. (PMID:9625333)
- Increased circulating corticosterone level (HP:0032362): An abnormally elevated concentration of corticosterone in the blood. Evidence: PCS. Frequency: 1/1. (PMID:1594605)
- Dehydration (HP:0001944). Evidence: IEA. (OMIM:610600)
- Hyponatremia (HP:0002902): The concentration of sodium in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:9625333)
- Increased circulating 18-hydroxycortisone level (HP:0020200): An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:1594605)
- 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: PCS. (PMID:1594605)
- Decreased circulating aldosterone concentration (HP:0004319): Abnormally reduced levels of aldosterone. Evidence: PCS. Frequency: 1/1. (PMID:9625333)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: PCS. (PMID:9625333)
- Renal salt wasting (HP:0000127): A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s). Evidence: PCS. (PMID:9625333)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: IEA. (OMIM:610600)
These phenotypes are associated with the disease corticosterone methyloxidase type 2 deficiency (OMIM:610600).