- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 5/5. (PMID:10053007;PMID:30152556)
- Ichthyosis (HP:0008064): An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. Evidence: PCS. Frequency: 1/1. (PMID:30152556)
- 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:30152556)
- Scaling skin (HP:0040189): Refers to the loss of the outer layer of the epidermis in large, scale-like flakes. Evidence: PCS. Frequency: 4/4. (PMID:10053007)
- Erythema (HP:0010783): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: PCS. Frequency: 4/4. Onset: Congenital onset (HP:0003577). (PMID:10053007)
- Orthokeratosis (HP:0040162): Formation of an anuclear keratin layer. Evidence: PCS. Frequency: 1/1. (PMID:30152556)
- 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: 4/4. (PMID:10053007)
- Palmoplantar keratoderma (HP:0000982): Abnormal thickening of the skin of the palms of the hands and the soles of the feet. Evidence: PCS. Frequency: 1/1. (PMID:30152556)
- 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:10053007)
- Skin erosion (HP:0200041): A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed. Evidence: PCS. Frequency: 4/4. Onset: Congenital onset (HP:0003577). (PMID:10053007)
These phenotypes are associated with the disease ichthyosis, annular epidermolytic, 2 (OMIM:620148).