- Hyperkalemia (HP:0002153): The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. Evidence: PCS. (PMID:22266938)
- Pseudohypoaldosteronism (HP:0008242): A state of renal tubular unresponsiveness or resistance to the action of aldosterone. Evidence: PCS. (PMID:22266938)
- Hyperchloremic metabolic acidosis (HP:0004918): A form of metabolic acidosis with increased serum chloride levels. Evidence: PCS. (PMID:22266938)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. (PMID:22266938)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. (PMID:22266938)
- 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:22266938)
- Hyperchloremia (HP:0011423): The concentration of chloride in the blood circulation is above the upper limit of normal. Evidence: PCS. (PMID:22266938)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:22266938)
These phenotypes are associated with the disease pseudohypoaldosteronism type 2D (OMIM:614495).