- Increased serum prostaglandin E2 (HP:0003566): An increased concentration of prostaglandin E2 in the blood. Evidence: IEA. (OMIM:241150)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: IEA. (OMIM:241150)
- Increased circulating renin concentration (HP:0000848): An increased level of renin in the blood. Evidence: IEA. (OMIM:241150)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: IEA. (OMIM:241150)
- Hypokalemic alkalosis (HP:0001949). Evidence: IEA. (OMIM:241150)
- 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:241150)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: IEA. (OMIM:241150)
- Proximal tubulopathy (HP:0000114): Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle. Evidence: IEA. (OMIM:241150)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: IEA. (OMIM:241150)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. (OMIM:241150)
- Abnormal circulating magnesium concentration (HP:0004921): Any deviation from the normal concentration of magnesium in the blood circulation. Evidence: IEA. (OMIM:241150)
These phenotypes are associated with the disease hypokalemic alkalosis, familial, with specific renal tubulopathy (OMIM:241150).