Rett Syndrome

 

  • Rare genetic neurodevelopmental disorder affecting mostly females.
  • Caused by mutations in the MECP2 gene on the X chromosome.
  • The majority of cases are caused by new mutations.
  • They often exhibit autistism-like features in the early stages.
  • Repetitive hand wringing or moving their hands to their mouth is a charaterisitic hallmark feature!

Read more about the features of Rett Syndrome at the NINDS.

Category: Genetics Mnemonics

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