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Question
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Which of the following statements is false regarding the disease of this child?
Explanation
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Forme fruste variant of Retts syndrome is the most common atypical variant accounting for 80% of cases well-preserved motor skills and only subtle neurological abnormalities such as mild hand dyspraxia.
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Reference
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Kyle, S. M., Vashi, N. & Justice, M. J. Rett syndrome a neurological disorder with metabolic components. Open Biol 8, 170216 (2018).
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Option 1
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Is Correct (Option 1):
She has Rett's syndrome due to MECP2 mutation
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Option 2
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Is Correct (Option 2):
There is abnormal lipid metabolism
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Option 3
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Is Correct (Option 3):
This disease has phenotypic heterogeneity
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Option 4
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Is Correct (Option 4):
Forme Fruste variant is the classic syndrome with severe neuroregression
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