- Bicarbonate-wasting renal tubular acidosis (HP:0004910). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:47159)
- Hyperchloremic metabolic acidosis (HP:0004918): A form of metabolic acidosis with increased serum chloride levels. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:47159)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:47159)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:47159)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:47159)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:47159)
- Bicarbonaturia (HP:0003646): Abnormally increased concentration of hydrogencarbonate in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:47159)
- Abnormality of the eye (HP:0000478): Any abnormality of the eye, including location, spacing, and intraocular abnormalities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:47159)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:47159)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:47159)
- Band keratopathy (HP:0000585): An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:47159)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:47159)
- Abnormality of the skeletal system (HP:0000924): An abnormality of the skeletal system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:47159)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:47159)
- Mild postnatal growth retardation (HP:0001530): A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:47159)
- Dehydration (HP:0001944). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:47159)
- Polydipsia (HP:0001959): Excessive thirst manifested by excessive fluid intake. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:47159)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:47159)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:47159)
- Hypercalciuria (HP:0002150). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:47159)
- Glycosuria (HP:0003076): An increased concentration of glucose in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:47159)
- Hyperphosphaturia (HP:0003109): An increased excretion of phosphates in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:47159)
- Low-molecular-weight proteinuria (HP:0003126): Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:47159)
- Hyperuricosuria (HP:0003149): An abnormally high level of uric acid in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:47159)
- Aminoaciduria (HP:0003355): An increased concentration of an amino acid in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:47159)
- Reduced bone mineral density (HP:0004349): A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:47159)
- Enamel hypomineralization (HP:0006285): A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:47159)
- Hypovolemia (HP:0011106): An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:47159)
- Global proximal tubulopathy (HP:0012573): A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:47159)
- Hypernatriuria (HP:0012605): An increased concentration of sodium(1+) in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:47159)
- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:47159)
- Coloboma (HP:0000589): A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:47159)
- Subvalvular aortic stenosis (HP:0001682): A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:47159)
- 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:47159)
These phenotypes are associated with the disease Proximal renal tubular acidosis (ORPHA:47159).