Advanced Rare Genetic Disorder Challenge
A rigorous assessment of obscure inherited diseases designed for seasoned medical professionals.
Quiz Questions
Answer all questions below and test your knowledge.
- 1
Which enzymatic defect underlies Fabry disease?
- 2
A newborn presents with profound hypotonia, seizures, and elevated very long‑chain fatty acids. Which peroxisomal disorder is most likely?
- 3
Which mutation type is most frequently associated with Marfan syndrome?
- 4
In hereditary hemorrhagic telangiectasia, what vascular anomaly characterizes the pulmonary circulation?
- 5
Which therapy has shown disease‑modifying benefit in early‑onset Huntington disease?
- 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?
- 7
Which cytokine is most implicated in the pathogenesis of familial hemophagocytic lymphohistiocytosis type 2?
Never miss a quiz!
Daily challenges on Telegram
Check These Out Too
Iconic Movie Quotes Quiz
How well do you know your movie lines? See if you can match these famous quotes to their films!
80s Movie Mania: The Ultimate Trivia Gauntlet
Think you know your 'Back to the Future' from your 'Blade Runner'? Prove your 80s movie mastery with these challenging questions!
Can You Name These Capital Cities?
Put your global knowledge to the test! Match the country to its capital city.
Easy Music Trivia Challenge!
Think you know music? Let's find out with this super easy trivia quiz!
History's Hidden Chapters: A Scandalous Quiz
Dive deep into the annals of time and test your knowledge of history's most surprising secrets and scandalous events. Are you ready for the truth?
Idioms & Phrases Challenge
How well do you know common English idioms and phrases? Let's find out!