- Tooth agenesis (HP:0009804, a Human Phenotype Ontology term): The absence of one or more teeth from the normal series by a failure to develop. Evidence: PCS. Frequency: 1/1. (PMID:16628197)
- Woolly hair (HP:0002224, a Human Phenotype Ontology term): The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. Evidence: PCS. Frequency: 1/1. (PMID:16628197)
- 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: TAS. (OMIM:615821)
- Gingival recession (HP:0030816, a Human Phenotype Ontology term): The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth. Evidence: TAS. (OMIM:615821)
- Erythema (HP:0010783, a Human Phenotype Ontology term): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: IEA. (OMIM:615821)
- Fragile nails (HP:0001808, a Human Phenotype Ontology term): Nails that easily break. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615821)
- Ichthyosis (HP:0008064, a Human Phenotype Ontology term): 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: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615821)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:16628197)
- 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: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615821)
- Nail dystrophy (HP:0008404, a Human Phenotype Ontology term): 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: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615821)
- Palmoplantar keratoderma (HP:0000982, a Human Phenotype Ontology term): Abnormal thickening of the skin of the palms of the hands and the soles of the feet. Evidence: PCS. Frequency: 1/1. (PMID:16628197)
- Syncope (HP:0001279, a Human Phenotype Ontology term): A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615821)
- 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:16628197)
- Ventricular tachycardia (HP:0004756, a Human Phenotype Ontology term): A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms). Evidence: PCS. Frequency: 1/1. (PMID:16628197)
- Dilated cardiomyopathy (HP:0001644, a Human Phenotype Ontology term): Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. Evidence: PCS. Frequency: 1/1. (PMID:16628197)
- Hyperkeratosis (HP:0000962, a Human Phenotype Ontology term): Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes. Evidence: PCS. Frequency: 1/1. (PMID:16628197)
- Leukonychia (HP:0001820, a Human Phenotype Ontology term): White discoloration of the nails. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615821)
These phenotypes are associated with the disease cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis (OMIM:615821, an entry in Online Mendelian Inheritance in Man).