has material basis in germline mutation in ACTN2 cardiogenetic disease hereditary skeletal muscle disorder ACTN2-related cardiac and skeletal myopathy https://github.com/monarch-initiative/mondo/issues/8563 CMD1AA cardiomyopathy, hypertrophic, 23, with or without LVNC ACTN2 familial isolated dilated cardiomyopathy A cardiac and skeletal muscle disorder caused by variation in the gene ACTN2. Cardiac features include but are not limited to cardiac features such as dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, arrhythmias, left ventricular non-compaction, and left-dominant arrhythmogenic cardiomyopathy. Skeletal features include but are not limited to progressive distal and/or proximal muscle weakness, gait disturbance, muscle atrophy, and elevated creatine kinase. familial isolated dilated cardiomyopathy caused by mutation in ACTN2 dilated cardiomyopathy 1AA with or without left ventricular noncompaction GARD:0028023 dilated cardiomyopathy type 1AA cardiomyopathy, dilated, 1AA, with or without LVNC MONDO:0700349