Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation

Next up is Prisca Wille (Heidelberg) on: "A 🇩🇪 #CDKL5 registry". #DGfE22. First, Prisca describes the phenotypic spectrum of this X-linked severe DEE. They included all published patients n= 238. 👇 @CDKL5Alliance @Cdkl5VereinDACH https://t.co/mbzZ8OIQtf