- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: PCS. Frequency: 0/17. (PMID:9326936)
- Impaired renal tubular reabsorption of chloride (HP:0005579): Any impairment of reabsorption of chloride by the kidney. Evidence: IEA. (OMIM:607364)
- Generalized muscle weakness (HP:0003324): Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. Evidence: IEA. (OMIM:607364)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 5/17. (PMID:9326936)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 3/17. (PMID:9326936)
- Hypokalemic metabolic alkalosis (HP:0001960). Evidence: IEA. (OMIM:607364)
- Abnormal sclera morphology (HP:0000591): An abnormality of the sclera. Evidence: IEA. (OMIM:607364)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 6/17. (PMID:9326936)
- Increased urinary potassium (HP:0003081): An increased concentration of potassium(1+) in the urine. Evidence: IEA. (OMIM:607364)
- Increased circulating renin concentration (HP:0000848): An increased level of renin in the blood. Evidence: IEA. (OMIM:607364)
- Increased circulating aldosterone concentration (HP:0000859): Overproduction of the mineralocorticoid aldosterone by the adrenal cortex. Evidence: IEA. (OMIM:607364)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 3/17. (PMID:9326936)
- Abnormal retinal vascular morphology (HP:0008046): A structural abnormality of retinal vasculature. Evidence: IEA. (OMIM:607364)
- Dehydration (HP:0001944). Evidence: IEA. (OMIM:607364)
- 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:9326936)
- Renal potassium wasting (HP:0000128): High urine potassium in the presence of hypokalemia. Evidence: IEA. (OMIM:607364)
- Hyperchloriduria (HP:0002914): An increased concentration of chloride in the urine. Evidence: IEA. (OMIM:607364)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 17/17. (PMID:9326936)
- Hypotension (HP:0002615): Low Blood Pressure, vascular hypotension. Evidence: IEA. (OMIM:607364)
- Polyuria (HP:0000103): An increased rate of urine production. Evidence: IEA. (OMIM:607364)
- Hypocalciuria (HP:0003127): An abnormally decreased calcium concentration in the urine. Evidence: PCS. Frequency: 11/17. (PMID:9326936)
- 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: TAS. (OMIM:607364)
- Abnormal choroid morphology (HP:0000610): Any structural abnormality of the choroid (the posterior part of the uvea, the middle tunic of the eye, consisting mainly of blood vessels). Evidence: IEA. (OMIM:607364)
- Hyperactive renin-angiotensin system (HP:0000841): An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms. Evidence: IEA. (OMIM:607364)
These phenotypes are associated with the disease Bartter disease type 3 (OMIM:607364).