- Carious teeth (HP:0000670, a Human Phenotype Ontology term): 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: 3/3. (PMID:7706760)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:7706760)
- Patchy alopecia (HP:0002232, a Human Phenotype Ontology term): Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches. Evidence: PCS. Frequency: 3/3. (PMID:7706760)
- Camptodactyly of finger (HP:0100490, a Human Phenotype Ontology term): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. Evidence: IEA. (OMIM:226650)
- Fragile nails (HP:0001808, a Human Phenotype Ontology term): Nails that easily break. Evidence: IEA. (OMIM:226650)
- Abnormal blistering of the skin (HP:0008066, a Human Phenotype Ontology term): 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:7706760)
- Enamel hypoplasia (HP:0006297, a Human Phenotype Ontology term): Developmental hypoplasia of the dental enamel. Evidence: PCS. Frequency: 3/3. (PMID:7706760)
- Hypodontia (HP:0000668, a Human Phenotype Ontology term): The absence of five or less teeth from the normal series by a failure to develop. Evidence: IEA. (OMIM:226650)
- Palmar hyperhidrosis (HP:0006089, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:226650)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:7706760)
- Plantar hyperkeratosis (HP:0007556, a Human Phenotype Ontology term): Hyperkeratosis affecting the sole of the foot. Evidence: IEA. (OMIM:226650)
- Nail dystrophy (HP:0008404, a Human Phenotype Ontology term): 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: 13/13. (PMID:7706760;OMIM:226650)
- Oral mucosal blisters (HP:0200097, a Human Phenotype Ontology term): Blisters arising in the mouth. Evidence: TAS. (OMIM:226650)
These phenotypes are associated with the disease junctional epidermolysis bullosa, non-Herlitz type (OMIM:226650, an entry in Online Mendelian Inheritance in Man).