Examlex
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Phenylketonuria
A genetic disorder characterized by the body's inability to break down the amino acid phenylalanine, leading to potential brain damage and cognitive impairment.
Sickle Cell Anemia
An inherited form of anemia in which there is an abnormality in the hemoglobin beta chains; the inheritance pattern is autosomal recessive.
Cystic Fibrosis
A genetic disorder affecting the lungs and digestive system, characterized by thick, sticky mucus that can lead to severe respiratory and digestive problems.
Tay-Sachs Disease
A genetic disorder characterized by the absence of a specific enzyme, resulting in the accumulation of fats in nerve cells, leading to death in early childhood.
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