- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: IEA. (OMIM:256200)
- 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:256200)
- Short distal phalanx of the thumb (HP:0009650): Hypoplastic (short) distal phalanx of the thumb. Evidence: TAS. (OMIM:256200)
- Bifid uvula (HP:0000193): Uvula separated into two parts most easily seen at the tip. Evidence: IEA. (OMIM:256200)
- Partial duplication of the distal phalanx of the hallux (HP:0010097). Evidence: TAS. (OMIM:256200)
- Short distal phalanx of hallux (HP:0010103): Underdevelopment (hypoplasia) of the distal phalanx of big toe. Evidence: TAS. (OMIM:256200)
- 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: TAS. (OMIM:256200)
- Bifid distal phalanx of the thumb (HP:0009611): Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. Evidence: TAS. (OMIM:256200)
- X-linked dominant inheritance (HP:0001423): A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. Evidence: TAS. (OMIM:256200)
These phenotypes are associated with the disease nephrosis-deafness-urinary tract-digital malformations syndrome (OMIM:256200).