Q:

All the following are characteristic features of infantile Refsum disease EXCEPT

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All the following are characteristic features of infantile Refsum disease EXCEPT 


  1. ataxic gait
  2. hypertonia
  3. hearingloss
  4. impaired cognition
  5. retinal degeneration

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(B). Early hypotonia and hepatomegaly with impaired function are common

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