- Acute kidney injury (HP:0001919): Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). Evidence: PCS. Frequency: 1/1. (PMID:27210743)
- Hyperoxaluria (HP:0003159): Increased excretion of oxalates in the urine. Evidence: PCS. Frequency: 1/1. (PMID:27210743)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:27210743)
- Calcium oxalate nephrolithiasis (HP:0008672): The presence of calcium- and oxalate-containing calculi (stones) in the kidneys. Evidence: PCS. Frequency: 1/1. (PMID:27210743)
- Ureteropelvic junction obstruction (HP:0000074): Blockage of urine flow from the renal pelvis to the proximal ureter. Evidence: PCS. Frequency: 1/1. (PMID:27210743)
- 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:27210743)
These phenotypes are associated with the disease nephrolithiasis susceptibility caused by SLC26A1 (OMIM:167030).