Disease
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Genes Diseases
Russell-Silver Syndrome: A genetic disorder affecting growth, development, and facial features.
What is the Russell-Silver Syndrome? Russell-Silver Syndrome (RSS) is a rare growth disorder characterized by prenatal growth restriction, postnatal growth…
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Genes Diseases
Sotos Syndrome: A genetic disorder affecting growth, development, and facial features.
What is the Sotos Syndrome ? Sotos Syndrome is a rare genetic disorder characterized by overgrowth, intellectual disability, and distinctive…
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Genes Diseases
Cornelia de Lange Syndrome: A genetic disorder affecting growth, development, and facial features.
What is the Cornelia de Lange Syndrome ? Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder characterized by…
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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 a person’s development. It is…
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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 and intellectual…
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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 characterized by a set of distinctive features,…
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Genes Diseases
Galactosemia: A metabolic disorder affecting the metabolism of galactose.
What is the Galactosemia ? Galactosemia is a rare genetic disorder that affects the body’s ability to metabolize galactose, a…
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Genes Diseases
Tyrosinemia: A metabolic disorder affecting the metabolism of amino acids.
What is the Tyrosinemia ? Tyrosinemia is a rare genetic disorder that affects the way the body breaks down an…
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