- Abnormal hair morphology (HP:0001595): An abnormality of the hair. Evidence: PCS. Frequency: 0/3. (PMID:28239884)
- Abnormal nail morphology (HP:0001597): Abnormal structure or appearance of the nail. Evidence: PCS. Frequency: 0/3. (PMID:28239884)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 1/3. (PMID:28239884)
- Abnormal dental morphology (HP:0006482): An abnormality of the morphology of the tooth. Evidence: PCS. Frequency: 0/3. (PMID:28239884)
- Hypergranulosis (HP:0025114): Hypergranulosis is an increased thickness of the stratum granulosum. Evidence: PCS. (PMID:23064416)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/3. (PMID:28239884)
- Epidermal acanthosis (HP:0025092): Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). Evidence: PCS. (PMID:23064416)
- Punctate palmoplantar hyperkeratosis (HP:0007530). Evidence: PCS. Frequency: 3/3. (PMID:23064416)
- Orthokeratosis (HP:0040162): Formation of an anuclear keratin layer. Evidence: PCS. (PMID:23064416)
- 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:23064416)
These phenotypes are associated with the disease palmoplantar keratoderma, punctate type 1A (OMIM:148600).