- Abnormal cornea morphology (HP:0000481): Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411634)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:411634)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:411634)
- Proximal tubulopathy (HP:0000114): Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:411634)
- Corneal crystals (HP:0000531). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:411634)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:411634)
- Renal Fanconi syndrome (HP:0001994): An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:411634)
- 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:411634)
- Glycosuria (HP:0003076): An increased concentration of glucose in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:411634)
- Low-molecular-weight proteinuria (HP:0003126): Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:411634)
- Aminoaciduria (HP:0003355): An increased concentration of an amino acid in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:411634)
- Ocular pain (HP:0200026): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:411634)
- Renal phosphate wasting (HP:0000117): High urine phosphate in the presence of hypophosphatemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:411634)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:411634)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:411634)
- Polydipsia (HP:0001959): Excessive thirst manifested by excessive fluid intake. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:411634)
- Hypophosphatemia (HP:0002148): The concentration of phosphate ion in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:411634)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:411634)
- Hypocalcemia (HP:0002901): The concentration of calcium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:411634)
- Hyponatremia (HP:0002902): The concentration of sodium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:411634)
- Microscopic hematuria (HP:0002907): Microscopic hematuria detected by dipstick or microscopic examination of the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:411634)
- Elevated circulating creatinine concentration (HP:0003259): An increased amount of creatinine in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:411634)
- Hypouricemia (HP:0003537): The concentration of uric acid in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:411634)
- Stage 5 chronic kidney disease (HP:0003774): A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:411634)
- Poor appetite (HP:0004396): A reduced desire to eat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:411634)
- Elevated alkaline phosphatase of bone origin (HP:0010639): An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:411634)
- Abnormal urine potassium concentration (HP:0012598): An abnormal concentration of potassium(1+) in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:411634)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:411634)
- Elevated leukocyte cystine (HP:0032639): An increased concentration of cystine within white blood cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:411634)
- Decreased circulating vitamin D concentration (HP:0100512): The concentration of vitamin D in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:411634)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:411634)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:411634)
- Metabolic acidosis (HP:0001942): Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:411634)
- Dehydration (HP:0001944). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:411634)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:411634)
- Hypocalcemic tetany (HP:0003472): Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:411634)
- Hypovolemia (HP:0011106): An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:411634)
- Abnormal long bone morphology (HP:0011314): An abnormality of size or shape of the long bones. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:411634)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:411634)
These phenotypes are associated with the disease Juvenile nephropathic cystinosis (ORPHA:411634).