SMAD6-related disease

MONDO:0700324

A human disease in which the cause of the disease is a variation in the SMAD6 gene, and characterized by craniosynostosis with congenital heart disease and/or radioulnar synostosis.

Also known as: SMAD6-related disease with variable craniosynostosis, aortic valve disease, and/or radioulnar synostosis

11 clinical trials for this condition and its sub-types.

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