- Opacification of the corneal stroma (HP:0007759): Reduced transparency of the stroma of cornea. Evidence: IEA. (OMIM:215250)
- Nephrotic syndrome (HP:0000100): Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. Evidence: IEA. (OMIM:215250)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: IEA. (OMIM:215250)
- Abnormality of the respiratory system (HP:0002086): An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. Evidence: IEA. (OMIM:215250)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: IEA. (OMIM:215250)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: IEA. (OMIM:215250)
- Generalized bone demineralization (HP:0006462): A generalized decrease in bone mineral density. Evidence: TAS. (OMIM:215250)
- Mucopolysacchariduria (HP:0008155): Excessive amounts of mucopolysaccharide in the urine. Evidence: IEA. (OMIM:215250)
- 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: IEA. (OMIM:215250)
- Cor pulmonale (HP:0001648): Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle. Evidence: IEA. (OMIM:215250)
- Macronodular cirrhosis (HP:0006577): A type of cirrhosis characterized by the presence of large regenerative nodules. Evidence: IEA. (OMIM:215250)
- Abnormal T cell morphology (HP:0002843): Abnormal increase or decrease of total or subset T cell count. T cells are commonly characterized as CD3+ lymphocytes, or their subpopulations, in the blood, compared to a reference range for a given sex and age-group, measured ex vivo. These may include both TCR alpha/beta and gamma/delta T cells. Evidence: IEA. (OMIM:215250)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: IEA. (OMIM:215250)
- Immunodeficiency (HP:0002721): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: IEA. (OMIM:215250)
These phenotypes are associated with the disease chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome (OMIM:215250).