Phenotypes associated with the disease amelogenesis imperfecta type 1A (OMIM:104530):
- Amelogenesis imperfecta (HP:0000705): A developmental dysplasia of the dental enamel. Evidence: PCS. Frequency: 2/2. (PMID:23958762)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: PCS. Frequency: 2/2. (PMID:23958762)
- 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: 1/2. (PMID:23958762)
- Generalized microdontia (HP:0006311): A generalized form of microdontia. Evidence: IEA. (OMIM:104530)
- Dental enamel pits (HP:0009722): The presence of small depressions in the dental enamel. Evidence: PCS. Frequency: 1/2. (PMID:23958762)
- 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:23958762)
- Abnormality of the skin (HP:0000951): An abnormality of the skin. Evidence: PCS. Frequency: 0/2. (PMID:23958762)