- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: PCS. Frequency: 6/11. (PMID:36571463)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/6. (PMID:36571463)
- Hyperoxaluria (HP:0003159): Increased excretion of oxalates in the urine. Evidence: PCS. Frequency: 5/11. (PMID:36571463)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 1/6. (PMID:36571463)
- Late onset (HP:0003584): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 1/6. (PMID:36571463)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/6. (PMID:36571463)
- Hypocitraturia (HP:0012405): A lower than normal concentration of citrate(3-) in the urine. Evidence: PCS. Frequency: 4/11. (PMID:36571463)
- 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:36571463)
- 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: 5/11. (PMID:36571463)
These phenotypes are associated with the disease nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis (OMIM:620374).