- Renal dysplasia (HP:0000110, a Human Phenotype Ontology term): The presence of developmental dysplasia of the kidney. Evidence: IEA. (OMIM:314300)
- Torticollis (HP:0000473, a Human Phenotype Ontology term): Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. Evidence: IEA. (OMIM:314300)
- Pyelonephritis (HP:0012330, a Human Phenotype Ontology term): An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. Evidence: IEA. (OMIM:314300)
- Nephritis (HP:0000123, a Human Phenotype Ontology term): The presence of inflammation affecting the kidney. Evidence: IEA. (OMIM:314300)
- Unilateral renal atrophy (HP:0008717, a Human Phenotype Ontology term): A unilateral form of atrophy of the kidney. Evidence: IEA. (OMIM:314300)
- Keloids (HP:0010562, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:314300)
- Varicose veins (HP:0002619, a Human Phenotype Ontology term): Enlarged and tortuous veins. Evidence: IEA. (OMIM:314300)
- Cryptorchidism (HP:0000028, a Human Phenotype Ontology term): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: IEA. (OMIM:314300)
- Oligozoospermia (HP:0000798, a Human Phenotype Ontology term): Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. Evidence: IEA. (OMIM:314300)
- Facial asymmetry (HP:0000324, a Human Phenotype Ontology term): An abnormal difference between the left and right sides of the face. Evidence: IEA. (OMIM:314300)
- Melanocytic nevus (HP:0000995, a Human Phenotype Ontology term): A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger. Evidence: IEA. (OMIM:314300)
These phenotypes are associated with the disease torticollis-keloids-cryptorchidism-renal dysplasia syndrome (OMIM:314300, an entry in Online Mendelian Inheritance in Man).