- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. (PMID:1718160)
- Palmoplantar blistering (HP:0007446): A type of blistering that affects the skin of the palms of the hands and the soles of the feet. Evidence: PCS. Frequency: 18/18. (PMID:1718160)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:1718160)
These phenotypes are associated with the disease epidermolysis bullosa simplex 2B, generalized intermediate (OMIM:619588).