Genetics
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Genes Diseases
Smith-Magenis Syndrome: A genetic disorder affecting sleep, behavior, and facial features.
What is the Smith-Magenis Syndrome ? Smith-Magenis syndrome (SMS) is a rare genetic disorder caused by a deletion of a…
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Genes Diseases
DiGeorge Syndrome: A genetic disorder affecting the heart, immune system, and facial features.
What is the DiGeorge Syndrome ? DiGeorge syndrome, also known as velocardiofacial syndrome or 22q11.2 deletion syndrome, is a genetic…
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Genes Diseases
Williams Syndrome: A genetic disorder affecting cognitive development, facial features, and heart health.
What is the Williams Syndrome ? Williams syndrome is a rare genetic disorder that affects approximately 1 in 10,000 people.…
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Genes Diseases
Angelman Syndrome: A genetic disorder affecting development, behavior, and seizures.
What is the Angelman Syndrome? Angelman syndrome is a rare genetic disorder that causes severe developmental delays. It is characterized…
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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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