- Atrophy of alveolar ridges (HP:0006308). Evidence: IEA. (OMIM:245000)
- Severe periodontitis (HP:0000166): Increased susceptibility to periodontitis, as manifested by severe periodontal infection with rapid alveolar bone loss, tooth mobility, and premature tooth exfoliation. Evidence: IEA. Onset: Infantile onset (HP:0003593). (OMIM:245000)
- Premature loss of teeth (HP:0006480): Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal. Evidence: IEA. (OMIM:245000)
- 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:10581027)
- Choroid plexus calcification (HP:0006960): The presence of calcium deposition in the choroid plexus. Evidence: IEA. (OMIM:245000)
- Palmoplantar hyperkeratosis (HP:0000972): Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. Evidence: IEA. (OMIM:245000)
These phenotypes are associated with the disease Papillon-Lefevre disease (OMIM:245000).