- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. (PMID:27247351)
- Premature loss of teeth (HP:0006480): Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal. Evidence: PCS. (PMID:27247351)
- Pulp obliteration (HP:0006350): Mineralized substance filling the entire dental pulp space. Evidence: PCS. (PMID:27247351)
- Dentin dysplasia (HP:0033784): This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications. Evidence: PCS. (PMID:27247351)
- Abnormal dental root morphology (HP:0006486): An abnormality of the dental root. Evidence: PCS. (PMID:27247351)
- 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:27247351)
These phenotypes are associated with the disease dentin dysplasia, type IB (OMIM:621440).