- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: PCS. (PMID:23434854)
- 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: IEA. (OMIM:204690)
- Curved dental root (HP:4000104): A root of a tooth that is more rounded than normal. Evidence: PCS. (PMID:24927635)
- Amelogenesis imperfecta (HP:0000705): A developmental dysplasia of the dental enamel. Evidence: PCS. Frequency: 4/4. (PMID:21549343)
- Enuresis (HP:0000805): Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible. Evidence: IEA. (OMIM:204690)
- Overgrowth (HP:0001548): Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. Evidence: IEA. (OMIM:204690)
- 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:21549343)
- Impaired renal concentrating ability (HP:0004727): A defect in the ability to concentrate the urine. Evidence: IEA. (OMIM:204690)
- Polyuria (HP:0000103): An increased rate of urine production. Evidence: IEA. (OMIM:204690)
- Dagger-shaped pulp calcifications (HP:0006302): Dagger-shaped calcifications in the dental pulp. Evidence: IEA. (OMIM:204690)
- Gingival fibromatosis (HP:0000169): The presence of fibrosis of the gingiva. Evidence: PCS. Frequency: 4/4. (PMID:21549343)
- Delayed eruption of permanent teeth (HP:0000696): Delayed tooth eruption affecting the secondary dentition. Evidence: PCS. Frequency: 4/4. (PMID:21549343)
- Gingival overgrowth (HP:0000212): Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. Evidence: PCS. (PMID:21990045)
These phenotypes are associated with the disease amelogenesis imperfecta type 1G (OMIM:204690).