- Stage 5 chronic kidney disease (HP:0003774, a Human Phenotype Ontology term): A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. Evidence: PCS. Frequency: 1/3. (PMID:27932480)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 3/3. (PMID:27932480)
- Hypoalbuminemia (HP:0003073, a Human Phenotype Ontology term): The concentration of albumin in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:27932480)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:27932480)
- Proteinuria (HP:0000093, a Human Phenotype Ontology term): Increased levels of protein in the urine. Evidence: PCS. Frequency: 3/3. (PMID:27932480)
- Steroid-resistant nephrotic syndrome (HP:0012588, a Human Phenotype Ontology term): A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication. Evidence: PCS. Frequency: 3/3. (PMID:27932480)
- Minimal change glomerulonephritis (HP:0012579, a Human Phenotype Ontology term): The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria. Evidence: PCS. Frequency: 1/3. (PMID:27932480)
These phenotypes are associated with the disease nephrotic syndrome 15 (OMIM:617609, an entry in Online Mendelian Inheritance in Man).