- Stage 5 chronic kidney disease (HP:0003774): 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: 10/21. (PMID:22387013;PMID:24989131;PMID:32278749)
- Carpal osteolysis (HP:0001495): Osteolysis affecting carpal bones. Evidence: PCS. Frequency: 29/29. (PMID:22387013;PMID:23956186;PMID:24989131;PMID:32278749)
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: PCS. Frequency: 3/9. (PMID:24989131)
- Metatarsal osteolysis (HP:0001473): Osteolysis involving metatarsal bones. Evidence: PCS. (PMID:22387013)
- Inability to walk (HP:0002540): Incapability to ambulate. Evidence: PCS. Frequency: 1/1. (PMID:32278749)
- 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: 15/19. (PMID:22387013;PMID:23956186)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 3/7. (PMID:23956186)
- Ulnar deviation of the hand or of fingers of the hand (HP:0001193). Evidence: PCS. (PMID:23956186)
- Wrist pain (HP:0030836): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist. Evidence: PCS. Frequency: 9/9. (PMID:24989131)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 8/17. (PMID:23956186;PMID:24989131;PMID:32278749)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: PCS. (PMID:24989131)
- Ulnar deviation of the hand (HP:0009487): Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger). Evidence: PCS. (PMID:24989131)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/9. (PMID:24989131)
- Metacarpal osteolysis (HP:0001504). Evidence: PCS. (PMID:23956186)
- Osteolysis involving tarsal bones (HP:0006234): An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones. Evidence: PCS. Frequency: 18/18. (PMID:23956186;PMID:24989131;PMID:32278749)
- Wrist swelling (HP:0001225). Evidence: PCS. (PMID:23956186)
- Ankle swelling (HP:0001785). Evidence: IEA. (OMIM:166300)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: PCS. Frequency: 1/8. (PMID:23956186)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 5/16. (PMID:23956186;PMID:24989131)
- Ankle pain (HP:0030840): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle. Evidence: PCS. Frequency: 9/9. (PMID:24989131)
- Pes cavus (HP:0001761): An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). Evidence: PCS. Frequency: 1/8. (PMID:23956186)
- Bilateral elbow dislocations (HP:0005021). Evidence: PCS. Frequency: 1/1. (PMID:32278749)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: PCS. Frequency: 18/20. (PMID:23956186;PMID:24989131;PMID:32278749)
- Bilateral renal atrophy (HP:0012586): A two-sided form of atrophy of the kidney. Evidence: PCS. Frequency: 1/1. (PMID:32278749)
- Arthralgia (HP:0002829): Joint pain. Evidence: PCS. (PMID:23956186)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 1/1. (PMID:32278749)
- Hypoplasia of the maxilla (HP:0000327): Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. Evidence: IEA. (OMIM:166300)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: PCS. Frequency: 2/9. (PMID:23956186;PMID:32278749)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:22387013)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 1/1. (PMID:32278749)
- Triangular face (HP:0000325): Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. Evidence: PCS. Frequency: 1/1. (PMID:32278749)
These phenotypes are associated with the disease multicentric carpo-tarsal osteolysis with or without nephropathy (OMIM:166300).