- Scleral staphyloma (HP:0030854, a Human Phenotype Ontology term): A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. Evidence: PCS. Frequency: 1/4. (PMID:7795640)
- 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: IEA. Frequency: 2/4. (OMIM:120330)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 4/4. (PMID:7795640)
- Retinal detachment (HP:0000541, a Human Phenotype Ontology term): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:120330)
- Strabismus (HP:0000486, a Human Phenotype Ontology term): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: PCS. Frequency: 1/4. (PMID:7795640)
- Renal hypoplasia (HP:0000089, a Human Phenotype Ontology term): Hypoplasia of the kidney. Evidence: PCS. Frequency: 3/4. (PMID:7795640)
- Short stature (HP:0004322, a Human Phenotype Ontology term): 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: PCS. Frequency: 2/4. (PMID:7795640)
- Retinal coloboma (HP:0000480, a Human Phenotype Ontology term): A notch or cleft of the retina or choroid, located vertically below the optic disc. Evidence: IEA. (OMIM:120330)
- Seizure (HP:0001250, a Human Phenotype Ontology term): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. (OMIM:120330)
- Horseshoe kidney (HP:0000085, a Human Phenotype Ontology term): A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:120330)
- Chronic kidney disease (HP:0012622, a Human Phenotype Ontology term): Functional anomaly of the kidney persisting for at least three months. Evidence: PCS. Frequency: 4/4. (PMID:7795640)
- Mild proteinuria (HP:0012595, a Human Phenotype Ontology term): Mildly increased levels of protein in the urine (150-500 mg per day in adults). Evidence: PCS. Frequency: 3/4. (PMID:7795640)
- Cataract (HP:0000518, a Human Phenotype Ontology term): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:120330)
- Nystagmus (HP:0000639, a Human Phenotype Ontology term): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 1/4. (PMID:7795640)
- Morning glory anomaly (HP:0025514, a Human Phenotype Ontology term): An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic. Evidence: TAS. (OMIM:120330)
- Reduced visual acuity (HP:0007663, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 4/4. (PMID:7795640)
- Soft skin (HP:0000977, a Human Phenotype Ontology term): Subjective impression of increased softness upon palpation of the skin. Evidence: TAS. (OMIM:120330)
- Hyperextensible skin (HP:0000974, a Human Phenotype Ontology term): A condition in which the skin can be stretched beyond normal, and then returns to its initial position. Evidence: TAS. (OMIM:120330)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: IEA. (OMIM:120330)
- Renal malrotation (HP:0004712, a Human Phenotype Ontology term): An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:120330)
- Chorioretinal atrophy (HP:0000533, a Human Phenotype Ontology term): Atrophy (wasting) of the choroid and retinal layers of the fundus. Evidence: TAS. (OMIM:120330)
- Macular hyperpigmentation (HP:0011509, a Human Phenotype Ontology term): Increased amount of pigmentation in the macula. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:120330)
- Orbital cyst (HP:0001144, a Human Phenotype Ontology term): Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium). Evidence: IEA. (OMIM:120330)
- Vesicoureteral reflux (HP:0000076, a Human Phenotype Ontology term): Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. Evidence: PCS. Frequency: 2/4. (PMID:7795640)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 2/4. (PMID:7795640)
- Absence of renal corticomedullary differentiation (HP:0005564, a Human Phenotype Ontology term): A lack of differentiation between renal cortex and medulla on diagnostic imaging. Evidence: PCS. Frequency: 1/4. (PMID:7795640)
- Joint hypermobility (HP:0001382, a Human Phenotype Ontology term): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: TAS. (OMIM:120330)
- Hematuria (HP:0000790, a Human Phenotype Ontology term): The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). Evidence: PCS. Frequency: 2/4. (PMID:7795640)
- Gliosis (HP:0002171, a Human Phenotype Ontology term): Gliosis is the focal proliferation of glial cells in the central nervous system. Evidence: TAS. (OMIM:120330)
- Lens luxation (HP:0012019, a Human Phenotype Ontology term): Complete dislocation of the lens of the eye. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:120330)
- Proteinuria (HP:0000093, a Human Phenotype Ontology term): Increased levels of protein in the urine. Evidence: TAS. (OMIM:120330)
- High myopia (HP:0011003, a Human Phenotype Ontology term): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 3/4. (PMID:7795640)
- Edema (HP:0000969, a Human Phenotype Ontology term): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:120330)
- Sensorineural hearing impairment (HP:0000407, a Human Phenotype Ontology term): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 1/4. (PMID:7795640)
- Chiari type I malformation (HP:0007099, a Human Phenotype Ontology term): Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line). Evidence: TAS. (OMIM:120330)
- Macular degeneration (HP:0000608, a Human Phenotype Ontology term): A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:120330)
- Hypertension (HP:0000822, a Human Phenotype Ontology term): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 3/4. (PMID:7795640)
- Renal cyst (HP:0000107, a Human Phenotype Ontology term): A fluid filled sac in the kidney. Evidence: TAS. (OMIM:120330)
- Microphthalmia (HP:0000568, a Human Phenotype Ontology term): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: IEA. (OMIM:120330)
- Multicystic kidney dysplasia (HP:0000003, a Human Phenotype Ontology term): Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. Evidence: TAS. (OMIM:120330)
- Autosomal dominant inheritance (HP:0000006, 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 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:7795640)
- Elevated circulating creatinine concentration (HP:0003259, a Human Phenotype Ontology term): An increased amount of creatinine in the blood. Evidence: PCS. Frequency: 1/1. (PMID:7795640)
- Kidney stone (HP:0000787, a Human Phenotype Ontology term): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:120330)
- Optic disc coloboma (HP:0000588, a Human Phenotype Ontology term): A cleft of the optic nerve that extends inferiorly. Evidence: PCS. Frequency: 4/4. (PMID:7795640)
These phenotypes are associated with the disease renal coloboma syndrome (OMIM:120330, an entry in Online Mendelian Inheritance in Man).