- Arterial fibromuscular dysplasia (HP:0005313, a Human Phenotype Ontology term): An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer. Evidence: PCS. Frequency: 2/17. (PMID:27895300)
- 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: 14/17. (PMID:27895300)
- Late onset (HP:0003584, a Human Phenotype Ontology term): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 3/17. (PMID:27895300)
- Fusiform cerebral aneurysm (HP:0031056, a Human Phenotype Ontology term): A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery. Evidence: PCS. Frequency: 3/17. (PMID:27895300)
- Cerebral berry aneurysm (HP:0007029, a Human Phenotype Ontology term): A small, sac-like aneurysm (outpouching) of a cerebral blood vessel. Evidence: IEA. Frequency: 14/17. (PMID:27895300)
- Internal carotid artery dissection (HP:0012159, a Human Phenotype Ontology term): A separation (dissection) of the layers of the internal carotid artery wall. Evidence: PCS. Frequency: 1/17. (PMID:27895300)
- 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:27895300)
- Subarachnoid hemorrhage (HP:0002138, a Human Phenotype Ontology term): Hemorrhage occurring between the arachnoid mater and the pia mater. Evidence: PCS. Frequency: 7/17. (PMID:27895300)
These phenotypes are associated with the disease aneurysm, intracranial berry, 12 (OMIM:618734, an entry in Online Mendelian Inheritance in Man).