- Amelogenesis imperfecta (HP:0000705): A developmental dysplasia of the dental enamel. Evidence: IEA. Frequency: 3/3. (PMID:27412008)
- Enamel hypomineralization (HP:0006285): A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect. Evidence: PCS. Frequency: 1/1. (PMID:27412008)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. (PMID:27412008)
- 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:27412008)
These phenotypes are associated with the disease amelogenesis imperfecta type 3B (OMIM:617607).