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An autosomal dominant disorder that results in a defective or deficient LDL receptor is known as familial hypercholesterolemia. (FH). Most patient with FH do not live beyond 30 without intervention.

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Q: What is an autosomal dominant disorder that results in a defective or deficient LDL receptor known as?
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Is huntington disease a autosomal dominant disorder?

Yes


Is huntington disease an autosomal disorder?

Yes. HD is a disease of autosomal dominant inheritance.


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