Disease
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Genes Diseases
Prader-Willi Syndrome: A genetic disorder affecting growth, appetite, and behavior.
What is the Prader-Willi Syndrome ? Prader-Willi syndrome (PWS) is a rare genetic disorder that affects approximately 1 in 15,000…
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Genes Diseases
Cri-du-chat Syndrome: A genetic disorder caused by a deletion of part of chromosome
What is the Cri-du-chat Syndrome ? Cri-du-chat syndrome is a rare genetic disorder caused by the deletion of a portion…
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Genes Diseases
Klinefelter Syndrome: A genetic disorder affecting males, caused by an extra X chromosome.
What is the Klinefelter Syndrome ? Klinefelter syndrome is a genetic condition that affects males. It occurs when a male…
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Genes Diseases
Turner Syndrome: A genetic disorder affecting females, caused by a missing X chromosome.
What is the Turner Syndrome ? Turner syndrome is a genetic condition affecting females. It occurs when one of the…
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Genes Diseases
Down Syndrome: A genetic disorder caused by an extra chromosome
What is the Down Syndrome ? Down syndrome is a genetic condition caused by the presence of an extra full…
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Genes Diseases
Wilson Disease: A metabolic disorder causing copper to build up in the liver and brain.
What is the Wilson Disease ? Wilson disease is a rare genetic disorder that causes too much copper to build…
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Genes Diseases
Pompe Disease: A metabolic disorder affecting the muscles.
What is the Pompe Disease ? Pompe disease is a rare genetic disorder that affects the lysosomal enzyme acid alpha-glucosidase…
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Genes Diseases
Niemann-Pick Disease: A metabolic disorder affecting the liver, spleen, and brain.
What is the Niemann-Pick Disease ? Niemann-Pick disease is a rare genetic disorder that affects the metabolism of sphingomyelin, a…
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Genes Diseases
Gaucher Disease: A metabolic disorder affecting the spleen, liver, and bone marrow.
What is the Gaucher Disease ? Gaucher disease is a rare genetic disorder that affects the spleen, liver, and bone…
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Genes Diseases
Polycystic Kidney Disease: A disorder causing cysts to form in the kidneys.
What is the Polycystic Kidney Disease ? Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the growth of…
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