- Aortic valve stenosis (HP:0001650, a Human Phenotype Ontology term): The presence of a stenosis (narrowing) of the aortic valve. Evidence: PCS. Frequency: 1/2. (PMID:19808477)
- Middle age onset (HP:0003596, a Human Phenotype Ontology term): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 2/2. (PMID:19808477)
- Left atrial enlargement (HP:0031295, a Human Phenotype Ontology term): Increase in size of the left atrium. Evidence: PCS. Frequency: 1/2. (PMID:19808477)
- Paroxysmal atrial fibrillation (HP:0004757, a Human Phenotype Ontology term): Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously. Evidence: PCS. Frequency: 2/2. (PMID:19808477)
- 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:19808477)
These phenotypes are associated with the disease atrial fibrillation, familial, 13 (OMIM:615377, an entry in Online Mendelian Inheritance in Man).