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- ... characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can ...
- ... genetic condition that can affect several parts of the body, including the muscles used for movement (skeletal muscles), the heart, the brain, or the liver. Signs and ...
- ... actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers ... 13 potential forms of oral-facial-digital syndrome. The different types are classified by their patterns of ...
- ... variable signs and symptoms, but it primarily affects the brain, the immune system, and the skin. Aicardi-Goutières syndrome is often divided into two types, which are distinguished by the severity of features and the age at which ...
- Lymphangioleiomyomatosis (LAM) is a condition that affects the lungs, the kidneys, and the lymphatic system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells ...
- ... partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy. The cloudiness, which ...
- ... characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition ...
- ... 20-lyase deficiency is a condition that affects the function of certain hormone-producing glands called the gonads (ovaries in females and testes in males) ...
- Isolated ectopia lentis is a condition that affects the eyes, specifically the positioning of the lens. The lens is a clear structure at the front of the eye that helps focus light. ...
- Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few ...