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Hypoplastic heart
- ... syndrome type IV is characterized by blood vessel abnormalities, heart defects, and skeletal deformities. The TGFB2 gene mutations ...
- ... syndrome type V is characterized by blood vessel abnormalities, heart defects, and skeletal deformities. The TGFB3 gene mutations ...
- ... can impair normal heart development before birth, causing abnormalities of the heart and related structures. One such abnormality occurs in the valve that connects the aorta to the heart (the aortic valve). The aorta is the large ...
- ... that are present from birth (neonatal teeth), and abnormalities of the heart muscle (cardiomyopathy). The skin abnormalities lead to a severe loss of fluids and ...
- ... longer than usual to recharge between beats. This abnormality in the heart's electrical system can cause severe abnormalities of the heart rhythm (arrhythmias), which can lead to sudden death. ...
- ... the other features of Robinow syndrome, including genital abnormalities and heart defects. More About This Health Condition More than ...
- ... facial features. Males who survive infancy have bone abnormalities and heart, gastrointestinal, and genitourinary malformations. AMER1 gene mutations that ...
- ... rigid joints (arthrogryposis). Some affected individuals also have abnormalities of the heart, genitals, roof of the mouth, or the eyes. ...
- ... with MED13L syndrome have recurrent seizures (epilepsy) or heart abnormalities that are present from birth (congenital heart defects).Some MED13L gene mutations insert or delete ...
- ... the nasal passages, characteristic facial features, hearing loss, heart abnormalities, and short stature. Most people with Burn-McKeown ...