Phenotypes associated with the disease amelogenesis imperfecta, hypomaturation type, IIa6 (OMIM:617217):
- Amelogenesis imperfecta (HP:0000705): A developmental dysplasia of the dental enamel. Evidence: PCS. (PMID:27693231)
- 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: 1/10. (PMID:27693231)
- Enamel hypomineralization (HP:0006285): A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect. Evidence: PCS. (PMID:27693231)
- 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:27693231)