Retts Syndrome Flashcards

1
Q

What is the genetic mutation for Rett?

A

MeCP2

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2
Q

What are the major clinical characteristics for Rett?

A
  1. Girls
  2. Microcephaly
  3. Developmental regression
  4. Ataxia
  5. Sighing respirations
  6. Hand wringing
  7. Autistic behaviors
  8. GTC sz
  9. Cardiac arrhythmias
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