Genetic disorder
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Genes Diseases
Fabry disease
Brief information about it: Fabry disease is a rare genetic disorder caused by a deficiency of the enzyme alpha-galactosidase A…
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200+ Genes Queries
What is the difference between a genetic disorder and a congenital defect?
While both terms relate to conditions present at birth, there is a distinction: Genetic disorder: A condition caused by an…
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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
Alport Syndrome: A disorder affecting the kidneys and ears.
What is the Alport Syndrome ? Alport syndrome is a rare genetic disorder that affects the kidneys, ears, and eyes.…
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Genes Diseases
Familial Adenomatous Polyposis (FAP): A disorder increasing the risk of colon cancer.
What is the Familial Adenomatous Polyposis (FAP)? Familial Adenomatous Polyposis (FAP) is a genetic condition that causes the growth of…
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Genes Diseases
Von Hippel-Lindau Disease (VHL): A disorder causing benign tumors to grow in various organs.
What is the Von Hippel-Lindau Disease (VHL)? Von Hippel-Lindau disease (VHL) is a rare genetic disorder that can cause tumors…
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Genes Diseases
Neurofibromatosis Type 1 (NF1): A disorder causing benign tumors to grow on the nerves.
What is the Neurofibromatosis Type 1 (NF1) ? Neurofibromatosis Type 1 (NF1) is a genetic disorder that causes benign tumors…
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Genes Diseases
Hemochromatosis: A disorder causing iron overload.
What is the Hemochromatosis? Hemochromatosis is a genetic disorder that causes the body to absorb too much iron from the…
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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 a…
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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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