ACTC1-related distal arthrogryposis with congenital heart disease
MONDO:0700352A distal arthrogryposis caused by variation in the ACTC1 gene. This disease is characterised by multiple congenital contractures, neck pterygia, scoliosis, congenital heart defects, and/or cardiomyopathy.
67 clinical trials for this condition and its sub-types.
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Cardiovascular disorder
(1051)
Disease
(680)
Heart disorder
(300)
Congenital heart disease
(248)
Musculoskeletal system disorder
(207)
Hereditary disease
(176)
Muscle tissue disorder
(56)
Human disease
(14)
Developmental defect during embryogenesis
(8)
Congenital anomaly of cardiovascular system
(5)