- Abnormality of dental color (HP:0011073): A developmental defect of tooth color. Evidence: IEA. Frequency: 1/1. (PMID:26502894)
- Amelogenesis imperfecta (HP:0000705): A developmental dysplasia of the dental enamel. Evidence: PCS. Frequency: 4/4. (PMID:26502894;PMID:24858907)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: PCS. Frequency: 4/4. (PMID:26502894;PMID:24858907)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. (PMID:24858907)
- 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:24858907)
- Dental enamel pits (HP:0009722): The presence of small depressions in the dental enamel. Evidence: PCS. (PMID:24858907)
These phenotypes are associated with the disease amelogenesis imperfecta type 1F (OMIM:616270).