- Hyposthenuria (HP:0003158): An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine. Evidence: PCS. Frequency: 1/1. (PMID:32869508)
- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: PCS. Frequency: 59/59. (PMID:16705067;PMID:26136118;PMID:32869508;PMID:16501001;PMID:26426912;PMID:24321194;PMID:18816383;PMID:25477417;PMID:10878661;PMID:27067446;PMID:21669885;PMID:25852890)
- Astigmatism (HP:0000483): A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. Evidence: PCS. Frequency: 2/17. (PMID:32869508;PMID:18816383;PMID:10878661;PMID:27067446;PMID:25852890)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: PCS. Frequency: 1/17. (PMID:32869508;PMID:18816383;PMID:10878661;PMID:27067446;PMID:25852890)
- 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: 1/3. (PMID:18816383;PMID:27067446;PMID:21669885)
- 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: IEA. (OMIM:248250)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: PCS. Frequency: 1/2. (PMID:27067446)
- 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: PCS. Frequency: 32/32. (PMID:16705067;PMID:32869508;PMID:16501001;PMID:26426912;PMID:24321194;PMID:25477417;PMID:27067446;PMID:21669885)
- Abnormal circulating calcium concentration (HP:0004363): Any deviation from the normal concentration of calcium in the blood circulation. Evidence: PCS. Frequency: 0/11. (PMID:10878661)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 19/33. (PMID:16705067;PMID:32869508;PMID:16501001;PMID:18816383;PMID:25477417;PMID:27067446;PMID:25852890)
- Short metacarpal (HP:0010049): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: PCS. Frequency: 1/1. (PMID:26426912)
- Macroscopic hematuria (HP:0012587): Hematuria that is visible upon inspection of the urine. Evidence: PCS. Frequency: 4/5. (PMID:16705067;PMID:26426912;PMID:24321194;PMID:27067446)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: TAS. (OMIM:248250)
- Elevated circulating beta-CTX concentration (HP:0031425): The concentration of beta-CTX (= beta-C-terminal telopeptide, = beta-C-terminal telopeptide of type I collagen) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:27067446)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 0/5. (PMID:32869508;PMID:18816383;PMID:27067446;PMID:25852890)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 11/37. (PMID:26426912;PMID:24321194;PMID:25477417;PMID:27067446)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 5/12. (PMID:26136118;PMID:26426912;PMID:24321194)
- Bowing of the legs (HP:0002979): A bending or abnormal curvature affecting a long bone of the leg. Evidence: PCS. Frequency: 1/1. (PMID:16501001)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: PCS. Frequency: 1/1. (PMID:27067446)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. Frequency: 1/1. (PMID:27067446)
- Hyperuricosuria (HP:0003149): An abnormally high level of uric acid in the urine. Evidence: PCS. Frequency: 13/24. (PMID:25477417)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: PCS. Frequency: 23/42. (PMID:16501001;PMID:24321194;PMID:18816383;PMID:25477417;PMID:10878661;PMID:25852890)
- Hypocalcemic seizures (HP:0002199). Evidence: PCS. Frequency: 3/5. (PMID:16705067;PMID:32869508;PMID:26426912;PMID:21669885)
- Elevated circulating parathyroid hormone level (HP:0003165): An abnormal increased concentration of parathyroid hormone. Evidence: PCS. Frequency: 36/39. (PMID:26136118;PMID:32869508;PMID:24321194;PMID:25477417;PMID:10878661;PMID:27067446;PMID:25852890)
- Hypercalciuria (HP:0002150). Evidence: PCS. Frequency: 54/58. (PMID:16705067;PMID:26136118;PMID:32869508;PMID:16501001;PMID:26426912;PMID:24321194;PMID:18816383;PMID:25477417;PMID:10878661;PMID:27067446;PMID:21669885;PMID:25852890)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: PCS. Frequency: 1/1. (PMID:25852890)
- Sterile pyuria (HP:0100586): Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria. Evidence: PCS. Frequency: 14/24. (PMID:25477417)
- Microscopic hematuria (HP:0002907): Microscopic hematuria detected by dipstick or microscopic examination of the urine. Evidence: PCS. Frequency: 6/25. (PMID:24321194;PMID:25477417)
- Hyperphosphatemia (HP:0002905): The concentration of phosphate ion in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 3/5. (PMID:32869508;PMID:26426912;PMID:27067446)
- Rickets (HP:0002748): Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets. Evidence: PCS. Frequency: 2/24. (PMID:25477417)
- 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. Frequency: 20/20. (PMID:16705067;PMID:10390358)
- Hypocalcemia (HP:0002901): The concentration of calcium in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 8/13. (PMID:26136118;PMID:16501001;PMID:26426912;PMID:24321194;PMID:18816383;PMID:27067446;PMID:25852890)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: PCS. Frequency: 9/25. (PMID:26136118;PMID:25477417)
- Hyperuricemia (HP:0002149): The concentration of uric acid in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:26136118;PMID:32869508;PMID:25852890)
- 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: PCS. Frequency: 7/45. (PMID:16705067;PMID:26136118;PMID:32869508;PMID:16501001;PMID:26426912;PMID:24321194;PMID:18816383;PMID:25477417;PMID:27067446;PMID:21669885;PMID:25852890)
- Hypermetropia (HP:0000540): An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. Evidence: PCS. Frequency: 0/5. (PMID:32869508;PMID:18816383;PMID:27067446;PMID:25852890)
- Hypermagnesiuria (HP:0012608): An increased concentration of magnesium the urine. Evidence: PCS. Frequency: 43/45. (PMID:16705067;PMID:32869508;PMID:16501001;PMID:24321194;PMID:18816383;PMID:25477417;PMID:10878661;PMID:27067446;PMID:21669885;PMID:25852890)
- Hypocitraturia (HP:0012405): A lower than normal concentration of citrate(3-) in the urine. Evidence: PCS. Frequency: 19/29. (PMID:24321194;PMID:25477417;PMID:10878661)
- Hypercitraturia (HP:0012406): A greater than normal concentration of citrate(3-) in the urine. Evidence: PCS. Frequency: 9/9. (PMID:10878661)
- Hypomature enamel (HP:0033786): Enamel with a white or brown discoloration without hypoplasia. Evidence: PCS. Frequency: 1/6. (PMID:32869508;PMID:26426912)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 18/35. (OMIM:248250;PMID:18816383;PMID:25477417)
- Hypomagnesemia (HP:0002917): The concentration of magnesium in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 33/34. (PMID:16705067;PMID:26136118;PMID:32869508;PMID:16501001;PMID:26426912;PMID:24321194;PMID:18816383;PMID:10878661;PMID:27067446;PMID:21669885;PMID:25852890)
- Decreased circulating calcitriol concentration (HP:0012052): The concentration of calcitriol in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:26426912)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: PCS. Frequency: 4/6. (PMID:32869508;PMID:26426912)
- Feeding difficulties in infancy (HP:0008872): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: IEA. (OMIM:248250)
- Acidosis (HP:0001941): Abnormal acid accumulation or depletion of base. Evidence: PCS. Frequency: 1/2. (PMID:32869508;PMID:16501001)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 11/40. (PMID:16705067;PMID:26426912;PMID:24321194;PMID:18816383;PMID:25477417;PMID:21669885)
- Renal magnesium wasting (HP:0005567): High urine magnesium in the presence of hypomagnesemia. Evidence: PCS. Frequency: 41/41. (PMID:26136118;PMID:32869508;PMID:18816383;PMID:25477417;PMID:10878661;PMID:27067446;PMID:21669885)
- 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: 8/24. (PMID:25477417)
- Hematuria (HP:0000790): The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). Evidence: IEA. (OMIM:248250)
- Renal calcium wasting (HP:0012637): High urine calcium in the presence of hypocalcemia. Evidence: PCS. Frequency: 2/2. (PMID:26136118;PMID:21669885)
- Tetany (HP:0001281): A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency. Evidence: PCS. Frequency: 3/24. (PMID:25477417)
- Amelogenesis imperfecta (HP:0000705): A developmental dysplasia of the dental enamel. Evidence: PCS. Frequency: 5/6. (PMID:32869508;PMID:26426912)
- 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: 6/7. (PMID:18816383;PMID:10878661)
- Polydipsia (HP:0001959): Excessive thirst manifested by excessive fluid intake. Evidence: PCS. Frequency: 35/40. (PMID:18816383;PMID:25477417;PMID:10878661;PMID:27067446;PMID:25852890)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 2/3. (PMID:24321194;PMID:18816383)
- Polyuria (HP:0000103): An increased rate of urine production. Evidence: PCS. Frequency: 36/41. (PMID:32869508;PMID:18816383;PMID:25477417;PMID:10878661;PMID:27067446;PMID:25852890)
- Elevated circulating creatinine concentration (HP:0003259): An increased amount of creatinine in the blood. Evidence: PCS. Frequency: 6/6. (PMID:16705067;PMID:32869508;PMID:24321194;PMID:27067446)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. Frequency: 1/5. (PMID:32869508;PMID:18816383;PMID:27067446;PMID:25852890)
- 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: 9/32. (PMID:16705067;PMID:26136118;PMID:24321194;PMID:25477417)
These phenotypes are associated with the disease renal hypomagnesemia 3 (OMIM:248250).