Mondo Description Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene.
Uniprot Description An aortic aneurysm syndrome with widespread systemic involvement. LDS4 is characterized by arterial tortuosity, aortic dissection, intracranial aneurysm and subarachnoid hemorrhage, hypertelorism, bifid uvula, pectus deformity, bicuspid aortic valve, arachnodactyly, scoliosis, foot deformities, dural ectasia, joint hyperflexibility, and thin skin with easy bruising and striae.
Mondo Term and Equivalent IDs
MONDO:0013897: Loeys-Dietz syndrome 4