Health & Medicine

Advanced Rare Genetic Disorder Challenge

A rigorous assessment of obscure inherited diseases designed for seasoned medical professionals.

#medical genetics#rare diseases#genetics#pathophysiology#diagnosis#hereditary disorders#clinical reasoning

Quiz Intelligence

Total Questions

Difficulty Level

hard

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0/0

Quiz Questions

Answer all questions below and test your knowledge.

1
Which enzymatic defect underlies Fabry disease?
Question 1
2
A newborn presents with profound hypotonia, seizures, and elevated very long‑chain fatty acids. Which peroxisomal disorder is most likely?
Question 2
3
Which mutation type is most frequently associated with Marfan syndrome?
Question 3
4
In hereditary hemorrhagic telangiectasia, what vascular anomaly characterizes the pulmonary circulation?
Question 4
5
Which therapy has shown disease‑modifying benefit in early‑onset Huntington disease?
Question 5
6
A 25‑year‑old woman with a family history of early‑onset breast cancer tests positive for a BRCA1 truncating variant. What surveillance protocol is recommended after age 30?
Question 6
7
Which cytokine is most implicated in the pathogenesis of familial hemophagocytic lymphohistiocytosis type 2?
Question 7

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Advanced Rare Genetic Disorder Challenge

Quiz Intelligence

Quiz Questions

Which enzymatic defect underlies Fabry disease?

A newborn presents with profound hypotonia, seizures, and elevated very long‑chain fatty acids. Which peroxisomal disorder is most likely?

Which mutation type is most frequently associated with Marfan syndrome?

In hereditary hemorrhagic telangiectasia, what vascular anomaly characterizes the pulmonary circulation?

Which therapy has shown disease‑modifying benefit in early‑onset Huntington disease?

A 25‑year‑old woman with a family history of early‑onset breast cancer tests positive for a BRCA1 truncating variant. What surveillance protocol is recommended after age 30?

Which cytokine is most implicated in the pathogenesis of familial hemophagocytic lymphohistiocytosis type 2?

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