ACTC1-related distal arthrogryposis with congenital heart disease
A 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.
MONDO:0005453
congenital heart disease
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MONDO:0019942
distal arthrogryposis
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MONDO:0100547
cardiogenetic disease
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