- Absent eyebrow (HP:0002223): Absence of the eyebrow. Evidence: PCS. Frequency: 1/1. (PMID:9326952)
- Absent eyelashes (HP:0000561): Lack of eyelashes. Evidence: PCS. Frequency: 1/1. (PMID:9326952)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:9326952)
- Anhidrosis (HP:0000970): Inability to sweat. Evidence: PCS. Frequency: 1/1. (PMID:10233227)
- Fragile skin (HP:0001030): Skin that splits easily with minimal injury. Evidence: PCS. Frequency: 1/1. (PMID:10233227)
- Alopecia of scalp (HP:0002293). Evidence: PCS. Frequency: 1/1. (PMID:9326952)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 1/1. (PMID:10233227)
- Dystrophic fingernails (HP:0008391): The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate. Evidence: PCS. Frequency: 1/1. (PMID:10233227)
- Ectodermal dysplasia (HP:0000968): Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. Evidence: PCS. (PMID:10233227)
- Abnormal blistering of the skin (HP:0008066): The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. Evidence: PCS. Frequency: 1/1. (PMID:10233227)
- Scaling skin (HP:0040189): Refers to the loss of the outer layer of the epidermis in large, scale-like flakes. Evidence: PCS. Frequency: 1/1. (PMID:10233227)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:10233227)
- Palmoplantar hyperkeratosis (HP:0000972): Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. Evidence: PCS. Frequency: 2/2. (PMID:9326952;PMID:10233227)
- Palmoplantar blistering (HP:0007446): A type of blistering that affects the skin of the palms of the hands and the soles of the feet. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:9326952)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. Frequency: 1/1. (PMID:9326952)
These phenotypes are associated with the disease epidermolysis bullosa simplex due to plakophilin deficiency (OMIM:604536).