- Hyposthenuria (HP:0003158): An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine. Evidence: PCS. Frequency: 5/5. (PMID:22509993;PMID:23923981)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 5/6. (PMID:23923981;PMID:30558562)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: PCS. Frequency: 1/1. (PMID:22509993)
- Medullary nephrocalcinosis (HP:0012408): The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). Evidence: PCS. Frequency: 7/7. (PMID:22509993;PMID:23923981)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 8/8. (PMID:22509993;PMID:23923981;PMID:30558562)
- Abnormal serum anion gap (HP:0031961): Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration. Evidence: PCS. Frequency: 0/6. (PMID:22509993;PMID:23923981)
- Pyelonephritis (HP:0012330): An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. Evidence: PCS. Frequency: 0/1. (PMID:22509993)
- Enlarged vestibular aqueduct (HP:0011387): Increased size of the vestibular aqueduct. Evidence: PCS. Frequency: 2/2. (PMID:22509993;PMID:30558562)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 2/2. (PMID:22509993)
- Renal tubular acidosis (HP:0001947): Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. Evidence: IEA. (OMIM:267300)
- Decreased serum bicarbonate concentration (HP:0032066): An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation. Evidence: PCS. Frequency: 7/7. (PMID:22509993;PMID:23923981)
- Hyperchloremic metabolic acidosis (HP:0004918): A form of metabolic acidosis with increased serum chloride levels. Evidence: PCS. Frequency: 2/2. (PMID:22509993;PMID:30558562)
- Dehydration (HP:0001944). Evidence: PCS. Frequency: 2/2. (PMID:23923981)
- Abnormal circulating phosphate ion concentration (HP:0100529): Any deviation from the normal concentration of phosphate ion in the blood circulation. Evidence: PCS. Frequency: 0/5. (PMID:23923981)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: PCS. Frequency: 2/2. (PMID:23923981;PMID:30558562)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. Frequency: 3/3. (PMID:23923981)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: PCS. Frequency: 1/1. (PMID:23923981)
- Abnormality of alkaline phosphatase level (HP:0004379): An abnormality of alkaline phosphatase level. Evidence: PCS. Frequency: 0/5. (PMID:23923981)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: PCS. Frequency: 0/1. (PMID:22509993)
- Hypokalemic metabolic alkalosis (HP:0001960). Evidence: PCS. Frequency: 5/5. (PMID:23923981)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: PCS. Frequency: 3/3. (PMID:22509993;PMID:23923981;PMID:30558562)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 1/1. (PMID:23923981)
- Hyperchloremia (HP:0011423): The concentration of chloride in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:22509993)
- Alkaline urine (HP:0032944): Urine pH of 8 or higher. Evidence: PCS. Frequency: 3/3. (PMID:22509993;PMID:30558562)
- Distal renal tubular acidosis (HP:0008341): A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. Evidence: PCS. Frequency: 8/8. (PMID:22509993;PMID:23923981;PMID:30558562)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 3/3. (PMID:22509993;PMID:30558562)
- Hyponatremia (HP:0002902): The concentration of sodium in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/7. (PMID:22509993;PMID:23923981)
- 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:23923981)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 7/8. (PMID:22509993;PMID:23923981;PMID:30558562)
- Hypocalcemia (HP:0002901): The concentration of calcium in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:22509993)
- Elevated circulating creatinine concentration (HP:0003259): An increased amount of creatinine in the blood. Evidence: PCS. Frequency: 0/7. (PMID:22509993;PMID:23923981)
- Kidney stone (HP:0000787): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: PCS. Frequency: 10/12. (PMID:22509993;OMIM:267300)
- Severe sensorineural hearing impairment (HP:0008625): A severe form of sensorineural hearing impairment. Evidence: PCS. Frequency: 5/5. (PMID:23923981)
These phenotypes are associated with the disease renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss (OMIM:267300).