- Abnormal hair morphology (HP:0001595): An abnormality of the hair. Evidence: PCS. Frequency: 0/26. (PMID:9887343)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: PCS. Frequency: 0/26. (PMID:9887343)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. (PMID:9887343)
- Abnormal nail morphology (HP:0001597): Abnormal structure or appearance of the nail. Evidence: PCS. Frequency: 0/26. (PMID:9887343)
- Epidermal acanthosis (HP:0025092): Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). Evidence: PCS. Frequency: 1/1. (PMID:9887343)
- Palmoplantar keratoderma (HP:0000982): Abnormal thickening of the skin of the palms of the hands and the soles of the feet. Evidence: PCS. Frequency: 26/26. (PMID:9887343)
- 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:9887343)
These phenotypes are associated with the disease keratosis palmoplantaris striata 2 (OMIM:612908).