- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. (PMID:22265016)
- Parakeratosis (HP:0001036): Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes. Evidence: IEA. (OMIM:148500)
- Diffuse palmoplantar hyperkeratosis (HP:0007447): Diffuse abnormal thickening of the skin on the palms and soles. Evidence: PCS. Onset: Juvenile onset (HP:0003621). (PMID:22265016)
- Oral leukoplakia (HP:0002745): A thickened white patch on the oral mucosa that cannot be rubbed off. Evidence: PCS. (PMID:22265016)
- Follicular hyperkeratosis (HP:0007502): A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum. Evidence: PCS. (PMID:22265016)
- 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:22265016)
- Esophageal carcinoma (HP:0011459): The presence of a carcinoma of the esophagus. Evidence: PCS. Onset: Adult onset (HP:0003581). (PMID:22265016)
These phenotypes are associated with the disease palmoplantar keratoderma-esophageal carcinoma syndrome (OMIM:148500).