- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:8586427;PMID:7633458)
- Death in childhood (HP:0003819): Death in during childhood, defined here as between the ages of 2 and 10 years. Evidence: PCS. Frequency: 1/1. (PMID:8586427)
- 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:7633458)
- 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: 2/2. (PMID:8586427;PMID:7633458)
- 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:8586427)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: PCS. Frequency: 1/1. (PMID:7633458)
- Oral mucosal blisters (HP:0200097): Blisters arising in the mouth. Evidence: PCS. Frequency: 2/2. (PMID:8586427;PMID:7633458)
- Hypoplastic dermoepidermal hemidesmosomes (HP:0020117): Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin. Evidence: PCS. Frequency: 1/1. (PMID:7633458)
These phenotypes are associated with the disease epidermolysis bullosa, junctional 2B, severe (OMIM:619784).