Retts Syndrome Flashcards
1
Q
What is the genetic mutation for Rett?
A
MeCP2
2
Q
What are the major clinical characteristics for Rett?
A
- Girls
- Microcephaly
- Developmental regression
- Ataxia
- Sighing respirations
- Hand wringing
- Autistic behaviors
- GTC sz
- Cardiac arrhythmias