Das Rett-Syndrom ist eine x-chromosomal dominante Erkrankung des zentralen Nervensystem, die durch Mutationen im MECP2-Gen ausgelöst wird. Es existieren verschiedene allelische Varianten von Mutationen dieses Gens, so auch ein Rett-Syndrom mit erhaltener Sprechfähigkeit.
Rett-Syndrom | ||||
Atypisches Rett-Syndrom | ||||
MECP2 | ||||
Rett-Syndrom Variante mit erhaltener Sprechfähigkeit | ||||
MECP2 | ||||
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OMIM.ORG article Omim 312750 |