- 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: 0/39. (PMID:31613795)
- Albuminuria (HP:0012592): Increased concentration of albumin in the urine. Evidence: PCS. Frequency: 39/39. Onset: Childhood onset (HP:0011463). (PMID:31613795)
- 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:31613795)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: PCS. Frequency: 39/39. Onset: Childhood onset (HP:0011463). (PMID:31613795)
These phenotypes are associated with the disease proteinuria, chronic benign (OMIM:618884).