- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: PCS. Frequency: 1/1. (PMID:7550320)
- Dystrophic fingernails (HP:0008391): The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate. Evidence: PCS. Frequency: 1/1. (PMID:7550320)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:9012408)
- Scarring alopecia of scalp (HP:0004552). Evidence: PCS. Frequency: 3/3. (PMID:9012408;PMID:7550320)
- Lamina lucida cleavage (HP:0003341): The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin. Evidence: PCS. Frequency: 1/1. (PMID:7550320)
- Abnormal blistering of the skin (HP:0008066): The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. Evidence: PCS. Frequency: 3/3. (PMID:9012408;PMID:7550320)
- 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:7550320)
- Dental enamel pits (HP:0009722): The presence of small depressions in the dental enamel. Evidence: PCS. Frequency: 1/1. (PMID:7550320)
- Macular hyperpigmented dermopathy (HP:0007412). Evidence: PCS. Frequency: 1/1. (PMID:7550320)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. Frequency: 2/2. (PMID:9012408)
These phenotypes are associated with the disease epidermolysis bullosa, junctional 4, intermediate (OMIM:619787).