has material basis in germline mutation in ACTC1 congenital heart disease distal arthrogryposis cardiogenetic disease ACTC1-related distal arthrogryposis with congenital heart disease https://github.com/monarch-initiative/mondo/issues/9633 GARD:0028025 MONDO:0700352 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.