- Hypocalcification of dental enamel (HP:0011084): A form of hypomineralization of enamel characterized by reduced calcification. Evidence: PCS. (PMID:30506946)
- Amelogenesis imperfecta (HP:0000705): A developmental dysplasia of the dental enamel. Evidence: PCS. (PMID:30506946)
- 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: IEA. (OMIM:618386)
- Yellow-brown discoloration of the teeth (HP:0006286). Evidence: IEA. (PMID:30506946)
- 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:30506946)
These phenotypes are associated with the disease amelogenesis imperfecta, type 3C (OMIM:618386).