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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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Sub-types

Aortic valve disease 2 (11) Craniosynostosis 7 (0) Radioulnar synostosis, nonsyndromic, susceptibility to (0)

Broader categories

Disease (618) Hereditary disease (172) Human disease (14) Disease of genetic or genomic mechanism (2) Disease by etiologic mechanism (0)
Trials to join now! 4 Not yet recruiting 2 Not yet finished but already full! 4 Completed 1
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