- Milia (HP:0001056, a Human Phenotype Ontology term): Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin. Evidence: IEA. (OMIM:226600)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: TAS. (OMIM:226600)
- Sub-lamina densa cleavage (HP:0033803, a Human Phenotype Ontology term): A type of blistering in which the cleavage plane of blisters is located below the lamina densa. Evidence: PCS. Frequency: 2/2. (PMID:8513326)
- Alopecia (HP:0001596, a Human Phenotype Ontology term): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: IEA. (OMIM:226600)
- Squamous cell carcinoma (HP:0002860, a Human Phenotype Ontology term): The presence of squamous cell carcinoma of the skin. Evidence: IEA. (OMIM:226600)
- Esophageal stricture (HP:0002043, a Human Phenotype Ontology term): A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen. Evidence: TAS. (OMIM:226600)
- Flexion contracture (HP:0001371, a Human Phenotype Ontology term): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: IEA. (OMIM:226600)
- Fragile skin (HP:0001030, a Human Phenotype Ontology term): Skin that splits easily with minimal injury. Evidence: IEA. (OMIM:226600)
- Nail dysplasia (HP:0002164, a Human Phenotype Ontology term): The presence of developmental dysplasia of the nail. Evidence: IEA. (OMIM:226600)
- Narrow mouth (HP:0000160, a Human Phenotype Ontology term): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: IEA. (OMIM:226600)
- Atrophic scars (HP:0001075, a Human Phenotype Ontology term): Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. Evidence: PCS. Frequency: 2/2. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:8513326)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/2. (PMID:8513326)
- Cataract (HP:0000518, a Human Phenotype Ontology term): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: IEA. (OMIM:226600)
- Anemia (HP:0001903, a Human Phenotype Ontology term): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. (OMIM:226600)
- Enamel hypoplasia (HP:0006297, a Human Phenotype Ontology term): Developmental hypoplasia of the dental enamel. Evidence: IEA. (OMIM:226600)
- Corneal scarring (HP:0000559, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:226600)
- Constipation (HP:0002019, a Human Phenotype Ontology term): Infrequent or difficult evacuation of feces. Evidence: IEA. (OMIM:226600)
- Dysphagia (HP:0002015, a Human Phenotype Ontology term): Difficulty in swallowing. Evidence: IEA. (OMIM:226600)
- Spontaneous esophageal perforation (HP:0005203, a Human Phenotype Ontology term): The occurrence of the full-thickness tear (perforation) of the wall of the esophagus. Evidence: IEA. (OMIM:226600)
- Mitten deformity (HP:0004057, a Human Phenotype Ontology term): Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a "mitten" hand deformity. Evidence: TAS. (OMIM:226600)
- Abnormal esophagus morphology (HP:0002031, a Human Phenotype Ontology term): A structural abnormality of the esophagus. Evidence: TAS. (OMIM:226600)
- Malnutrition (HP:0004395, a Human Phenotype Ontology term): A deficiency in the intake of energy and nutrients. Evidence: IEA. (OMIM:226600)
- 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: 2/2. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:8513326)
- Conjunctivitis (HP:0000509, a Human Phenotype Ontology term): Inflammation of the conjunctiva. Evidence: IEA. (OMIM:226600)
- 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:8513326)
- 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: TAS. (OMIM:226600)
- Growth delay (HP:0001510, a Human Phenotype Ontology term): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. (OMIM:226600)
- Oral mucosal blisters (HP:0200097, a Human Phenotype Ontology term): Blisters arising in the mouth. Evidence: PCS. Frequency: 2/2. (PMID:8513326)
These phenotypes are associated with the disease recessive dystrophic epidermolysis bullosa (OMIM:226600, an entry in Online Mendelian Inheritance in Man).