- Low-molecular-weight proteinuria (HP:0003126): Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD). Evidence: PCS. Frequency: 28/28. (PMID:29654216)
- 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: IEA. (OMIM:134600)
- Aminoaciduria (HP:0003355): An increased concentration of an amino acid in the urine. Evidence: PCS. Frequency: 28/28. (PMID:29654216)
- 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. Onset: Young adult onset (HP:0011462). (PMID:29654216)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: PCS. Frequency: 1/1. (PMID:29654216)
- Glycosuria (HP:0003076): An increased concentration of glucose in the urine. Evidence: PCS. Frequency: 28/28. (PMID:29654216)
- Impaired renal tubular reabsorption of phosphate (HP:0034359): Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption. Evidence: PCS. Frequency: 1/1. (PMID:29654216)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 28/28. (PMID:29654216)
- 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: 0/28. (PMID:29654216)
- Osteomalacia (HP:0002749): Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. Evidence: IEA. (OMIM:134600)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 0/1. (PMID:29654216)
- Lacticaciduria (HP:0003648): An increased concentration of lactic acid in the urine. Evidence: IEA. (OMIM:134600)
- Hyperphosphaturia (HP:0003109): An increased excretion of phosphates in the urine. Evidence: PCS. Frequency: 28/28. (PMID:29654216)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Onset: Adult onset (HP:0003581). (OMIM:134600)
- Renal tubular dysfunction (HP:0000124): Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid. Evidence: PCS. (PMID:29654216)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:29654216)
- Hypophosphatemia (HP:0002148): The concentration of phosphate ion in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/2. (PMID:29654216)
- 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: PCS. Frequency: 28/28. (PMID:29654216)
These phenotypes are associated with the disease Fanconi renotubular syndrome 1 (OMIM:134600).