Phenotypes associated with the disease isolated focal non-epidermolytic palmoplantar keratoderma (OMIM:616400):
- Patchy palmoplantar hyperkeratosis (HP:0005588): A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected. Evidence: PCS. Frequency: 2/2. (PMID:25285920)
- 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:25285920)