- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: IEA. Frequency: 2/2. (PMID:11810295;PMID:10951251)
- Abnormal nail morphology (HP:0001597): Abnormal structure or appearance of the nail. Evidence: PCS. Frequency: 1/1. (PMID:11810295)
- 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:11810295)
- 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:11810295;PMID:8012393;PMID:10951251)
- Death in early adulthood (HP:0100613): Death between the age of 16 and 40 years. Evidence: PCS. Frequency: 1/1. (PMID:8012393)
- 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:8012393)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: PCS. Frequency: 2/2. (PMID:11810295;PMID:10951251)
- Oral mucosal blisters (HP:0200097): Blisters arising in the mouth. Evidence: PCS. Frequency: 1/1. (PMID:10951251)
These phenotypes are associated with the disease epidermolysis bullosa, junctional 3B, severe (OMIM:619786).