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Up to: Cardiogenetic disease · Congenital heart disease · Distal arthrogryposis
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.
This condition has no sub-types.