Phenotypes associated with the disease atrial septal defect 6 (OMIM:613087, an entry in Online Mendelian Inheritance in Man):
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:18830233)
- Bradycardia (HP:0001662, a Human Phenotype Ontology term): A slower than normal heart rate (in adults, slower than 60 beats per minute). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:613087)
- Atrial fibrillation (HP:0005110, a Human Phenotype Ontology term): An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:613087)
- Atrial septal defect (HP:0001631, a Human Phenotype Ontology term): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: TAS. Frequency: 3/3. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (OMIM:613087)
- 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:18830233)