- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. (OMIM:214700)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/5. (PMID:19861545)
- Hypochloremia (HP:0003113): The concentration of chloride in the blood circulation is below the lower limit of normal. Evidence: IEA. (OMIM:214700)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 4/5. (PMID:19861545)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. (OMIM:214700)
- Elevated stool chloride content (HP:0034470): Elevated amount of chloride in the stool. Evidence: PCS. Frequency: 2/2. (PMID:19861545)
- Increased circulating aldosterone concentration (HP:0000859): Overproduction of the mineralocorticoid aldosterone by the adrenal cortex. Evidence: PCS. Frequency: 2/2. (PMID:19861545)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. (OMIM:214700)
- Alkalosis (HP:0001948): Depletion of acid or accumulation base in the body fluids. Evidence: IEA. (OMIM:214700)
- Increased circulating renin concentration (HP:0000848): An increased level of renin in the blood. Evidence: PCS. Frequency: 2/2. (PMID:19861545)
- Growth abnormality (HP:0001507). Evidence: IEA. (OMIM:214700)
- Elevated serum bicarbonate concentration (HP:0032067): An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation. Evidence: PCS. Frequency: 6/6. (PMID:19861545)
- Metabolic alkalosis (HP:0200114): Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process. Evidence: TAS. (OMIM:214700)
- Hyponatremia (HP:0002902): The concentration of sodium in the blood circulation is below the lower limit of normal. Evidence: IEA. (OMIM:214700)
- Dehydration (HP:0001944). Evidence: TAS. (OMIM:214700)
- 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:19861545)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 6/6. (PMID:19861545)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. (OMIM:214700)
- Secretory diarrhea (HP:0005208): Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption. Evidence: PCS. Frequency: 6/6. (PMID:19861545)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. (OMIM:214700)
- 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: TAS. (OMIM:214700)
These phenotypes are associated with the disease congenital secretory chloride diarrhea 1 (OMIM:214700).