Phenotypes associated with the disease palmoplantar keratoderma, Bothnian type (OMIM:600231):
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. (PMID:23830519)
- Diffuse palmoplantar hyperkeratosis (HP:0007447): Diffuse abnormal thickening of the skin on the palms and soles. Evidence: PCS. (PMID:23830519)
- 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:23830519)