The information on this page is for informational purposes only and does not constitute medical advice. Consult your genetic counselor or specialist physician for treatment decisions.

Loeys-Dietz Syndrome

Prevalence: 1/100000
cardiac
Official·OMIM:609192Official·ORPHA60030

Aortic aneurysm and skeletal anomalies due to TGFBR1/TGFBR2 gene mutations.

Associated Genes

No gene records found associated with this disease.