- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. (PMID:27120771)
- Hypochloremia (HP:0003113): The concentration of chloride in the blood circulation is below the lower limit of normal. Evidence: TAS. (OMIM:300971)
- Fetal polyuria (HP:0001563): Abnormally increased production of urine by the fetus resulting in polyhydramnios. Evidence: TAS. (OMIM:300971)
- Medullary nephrocalcinosis (HP:0012408): The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). Evidence: PCS. (PMID:27120771)
- Increased circulating renin concentration (HP:0000848): An increased level of renin in the blood. Evidence: TAS. (OMIM:300971)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:27120771)
- Hyponatremia (HP:0002902): The concentration of sodium in the blood circulation is below the lower limit of normal. Evidence: TAS. (OMIM:300971)
- Hypercalciuria (HP:0002150). Evidence: PCS. (PMID:27120771)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: TAS. (OMIM:300971)
- Polyuria (HP:0000103): An increased rate of urine production. Evidence: PCS. (PMID:27120771)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. (OMIM:300971)
These phenotypes are associated with the disease Bartter disease type 5 (OMIM:300971).