- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: PCS. Frequency: 12/12. (PMID:17033971)
- 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: 8/12. (PMID:17033971)
- Astigmatism (HP:0000483): A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. Evidence: IEA. (OMIM:248190)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/12. (PMID:17033971)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: PCS. Frequency: 8/12. (PMID:17033971)
- Renal magnesium wasting (HP:0005567): High urine magnesium in the presence of hypomagnesemia. Evidence: PCS. Frequency: 12/12. (PMID:17033971)
- Strabismus (HP:0000486): 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: IEA. (OMIM:248190)
- Abnormal circulating calcium concentration (HP:0004363): Any deviation from the normal concentration of calcium in the blood circulation. Evidence: PCS. Frequency: 0/12. (PMID:17033971)
- Hypermagnesiuria (HP:0012608): An increased concentration of magnesium the urine. Evidence: PCS. Frequency: 12/12. (PMID:17033971)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 8/12. (PMID:17033971)
- Hypercalciuria (HP:0002150). Evidence: PCS. Frequency: 12/12. (PMID:17033971)
- Renal calcium wasting (HP:0012637): High urine calcium in the presence of hypocalcemia. Evidence: TAS. (OMIM:248190)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: PCS. (PMID:17033971)
- Amelogenesis imperfecta (HP:0000705): A developmental dysplasia of the dental enamel. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:248190)
- Hypomagnesemia (HP:0002917): The concentration of magnesium in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 12/12. (PMID:17033971)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 11/11. (PMID:17033971)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/12. (PMID:17033971)
- 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: PCS. (PMID:17033971)
- Rod-cone dystrophy (HP:0000510): An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. Evidence: IEA. (OMIM:248190)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. Frequency: 10/12. (PMID:17033971)
- Kidney stone (HP:0000787): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: PCS. Frequency: 5/12. (PMID:17033971)
- Macular pseudocoloboma (HP:0001116): A so-called macular coloboma is characterized by a sharply defined, usually excavated, area without neuroretina and RPE tissues in the central area of the fundus. This lesion is not related to classical colobomas associated with optic fissure closure defects. Evidence: PCS. Frequency: 5/10. (PMID:17033971)
These phenotypes are associated with the disease renal hypomagnesemia 5 with ocular involvement (OMIM:248190).