Phenotypes associated with the disease cardiac conduction defect (OMIM:115080, an entry in Online Mendelian Inheritance in Man):
- 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: TAS. (OMIM:115080)
- 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. (OMIM:115080)
- 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: TAS. (OMIM:115080)
- Sudden death (HP:0001699, a Human Phenotype Ontology term): Rapid and unexpected death. Evidence: TAS. (OMIM:115080)