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For each of the following clinical scenarios concerning child health, select the most likely related genetic condition from the list provided.
Options
A
B
C
D
E
F
G
H
I
J
K
L
Question 1
A 4-year-old boy presents with a severe chest infection. He has a history of persistent cough, thick sputum and frequent lung infections.
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Question 2
A child is experiencing developmental delays, muscle weakness, and has unusually large ears.
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Question 3
A newborn was identified on newborn screening. She has a musty odor and is showing signs of intellectual disability.
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Question 4
A baby boy lacks certain reflexes and experiences seizures. He shows a red spot in his eyes (cherry-red spot).
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Question 5
A toddler has difficulty walking, falls frequently, and experiences muscle weakness and muscle wasting.
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