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Congenital heart anomalies
- ... in people with ALG12-CDG include a weakened heart muscle (cardiomyopathy) and poor bone development, which can lead to skeletal abnormalities. ALG12-CDG is a rare condition; its prevalence ...
- ... known as the QT interval is abnormally long. Abnormalities in the time it takes to recharge the heart lead to abnormal heart rhythms.The arrhythmia associated ...
- ... heart (left ventricle) does not develop correctly. The heart muscle is weakened and cannot pump blood efficiently. These cardiac abnormalities can result in a wide range of outcomes ...
- ... can lead to heart failure and an abnormal heart rhythm (arrhythmia) that can cause sudden death.People with congenital generalized lipodystrophy have a distinctive physical appearance. They ...
- ... cause Walker-Warburg syndrome, a severe form of congenital muscular dystrophy that affects the development of the eyes, brain, and skeletal muscles. The eye and brain abnormalities seen in those with Walker-Warburg syndrome are ...
- ... organs to be unable to function, including the heart (cardiac arrest) and kidneys (renal failure), and it can cause a blood clotting abnormality called disseminated intravascular coagulation. These complications may be ...
- ... affected people, the condition may also cause mild abnormalities of the autonomic neurons, which control involuntary body functions such as heart rate, digestion, and breathing. The sensory and autonomic ...
- ... understood. Based on the features of hypomyelination and congenital cataract, researchers presume that hyccin is involved in the formation of myelin throughout the nervous system. Hyccin is also active in the lens of the eye, the heart, and the kidneys. It is unclear how variants ...
- ... tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins.Parkes Weber syndrome is characterized by vascular abnormalities known as capillary malformations and arteriovenous fistulas (AVFs), ...
- ... skin (subcutaneous fat); wasting (atrophy) of muscles; dental abnormalities; excessive body hair growth (hirsutism); multiple cysts on the ovaries in females; and enlargement of the nipples, genitalia, kidneys, heart, and other organs. Most affected individuals also have ...