rare disease
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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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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 a…
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Genes Diseases
Albinism: A lack of melanin pigment in the skin, hair, and eyes.
What is the Albinism ? Albinism is a genetic disorder that reduces the production of melanin, the pigment that gives…
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