- Subcutaneous calcification (HP:0007618): Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument). Evidence: PCS. Frequency: 1/1. (PMID:16151858)
- Medullary nephrocalcinosis (HP:0012408): The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). Evidence: PCS. Frequency: 1/1. (PMID:16151858)
- 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:16151858)
- Hypercalciuria (HP:0002150). Evidence: PCS. Frequency: 1/1. (PMID:16151858)
- Radial bowing (HP:0002986): A bending or abnormal curvature of the radius. Evidence: IEA. Frequency: 1/1. (PMID:16151858)
These phenotypes are associated with the disease tumoral calcinosis, hyperphosphatemic, familial, 2 (OMIM:617993).