Phenotypes associated with the disease amelogenesis imperfecta type 1E (OMIM:301200):
- Amelogenesis imperfecta (HP:0000705): A developmental dysplasia of the dental enamel. Evidence: PCS. (PMID:15111628)
- Anterior open-bite malocclusion (HP:0009102): Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion. Evidence: PCS. Frequency: 1/1. (PMID:15111628)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: PCS. (PMID:15111628)
- Abnormal dentin morphology (HP:0010299): Any abnormality of dentin. Evidence: PCS. Frequency: 0/3. (PMID:15111628)
- X-linked dominant inheritance (HP:0001423): A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. Evidence: PCS. (PMID:1916828)