Autosomal recessive
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Single-Gene Disorders: कारण, प्रकार, उदाहरण औरInheritance Pattern — पूरी जानकारी
Single-Gene Disorder क्या होता है? जब किसी एक ही जीन में बदलाव (mutation) हो जाता है तो उसे Single-Gene Disorder…
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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
Homocystinuria: A metabolic disorder affecting the metabolism of amino acids.
Homocystinuria: A metabolic disorder affecting the metabolism of amino acids. What is the Homocystinuria ? Homocystinuria is a rare genetic…
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Genes Diseases
Phenylketonuria (PKU): A metabolic disorder that can cause intellectual disability.
What is the Phenylketonuria (PKU) ? Phenylketonuria (PKU) is a genetic disorder that affects the way the body breaks down…
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Genes Diseases
Tay-Sachs Disease: A fatal neurodegenerative disorder affecting infants.
What is the Tay-Sachs Disease ? Tay-Sachs disease is a rare genetic disorder that causes progressive damage to the nervous…
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Genes Diseases
Sickle Cell Anemia: A blood disorder caused by abnormal hemoglobin.
What is the Sickle Cell Anemia ? Sickle cell anemia is a genetic disorder that affects red blood cells. People…
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Genes Diseases
Cystic Fibrosis: A genetic disorder affecting the lungs, pancreas, and other organs.
What is the Cystic Fibrosis ? Cystic fibrosis (CF) is a genetic disorder that affects the lungs, pancreas, liver, and…
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