- Erythematous plaque (HP:0025474, a Human Phenotype Ontology term): A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation. Evidence: PCS. Frequency: 18/18. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:30528822)
- Abnormal hair morphology (HP:0001595, a Human Phenotype Ontology term): An abnormality of the hair. Evidence: PCS. Frequency: 0/18. (PMID:30528822)
- Parakeratosis (HP:0001036, a Human Phenotype Ontology term): 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: PCS. (PMID:30528822)
- Abnormal dental morphology (HP:0006482, a Human Phenotype Ontology term): An abnormality of the morphology of the tooth. Evidence: PCS. Frequency: 0/18. (PMID:30528822)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 18/18. (PMID:30528822)
- Arrhythmia (HP:0011675, a Human Phenotype Ontology term): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: PCS. Frequency: 0/18. (PMID:30528822)
- Pruritus (HP:0000989, a Human Phenotype Ontology term): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: PCS. (PMID:30528822)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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:30528822)
- Superficial dermal perivascular inflammatory infiltrate (HP:0031190, a Human Phenotype Ontology term): Numerous lymphocytes surrounding blood vessels in the superficial part of the dermis. Evidence: PCS. (PMID:30528822)
These phenotypes are associated with the disease erythrokeratodermia variabilis et progressiva 6 (OMIM:618531, an entry in Online Mendelian Inheritance in Man).