- Pulp obliteration (HP:0006350): Mineralized substance filling the entire dental pulp space. Evidence: IEA. (OMIM:125400)
- Microdontia (HP:0000691): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: PCS. Frequency: 2/2. (PMID:22152679)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: PCS. Frequency: 2/2. (PMID:22152679)
- Taurodontia (HP:0000679): Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots. Evidence: PCS. Frequency: 2/2. (PMID:22152679)
- 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:22152679)
- Periapical bone loss (HP:0000700): Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root). Evidence: IEA. (OMIM:125400)
- Short dental root (HP:0006336): Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length. Evidence: PCS. Frequency: 2/2. (PMID:22152679)
- Oligodontia (HP:0000677): The absence of six or more teeth from the normal series by a failure to develop. Evidence: PCS. Frequency: 2/2. (PMID:22152679)
These phenotypes are associated with the disease atypical dentin dysplasia due to SMOC2 deficiency (OMIM:125400).