- Hyperkalemia (HP:0002153): The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. Evidence: PCS. (PMID:8589714)
- Increased circulating renin concentration (HP:0000848): An increased level of renin in the blood. Evidence: PCS. (PMID:8589714)
- Increased circulating aldosterone concentration (HP:0000859): Overproduction of the mineralocorticoid aldosterone by the adrenal cortex. Evidence: PCS. (PMID:8589714)
- Dehydration (HP:0001944). Evidence: PCS. (PMID:8589714)
- Hyponatremia (HP:0002902): The concentration of sodium in the blood circulation is below the lower limit of normal. Evidence: PCS. (PMID:8589714)
- 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:8589714)
- Hypotension (HP:0002615): Low Blood Pressure, vascular hypotension. Evidence: PCS. (PMID:8589714)
- Metabolic acidosis (HP:0001942): Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. Evidence: PCS. (PMID:8589714)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. (PMID:8589714)
These phenotypes are associated with the disease pseudohypoaldosteronism, type IB2, autosomal recessive (OMIM:620125).