Analysis of the Phenotypes in the Rett Networked Database

Figure 3

Genotypes and phenotypes in RND. The majority of MECP2-mutated patients (light blue) have the classic form (triangles), the majority of CDKL5-mutated patients (green) have the early-onset seizure variant (stars), and the majority of FOXG1-mutated patients (pink) have the congenital form (crosses). Several exceptions to this rule are present: among the MECP2-mutated patients (light blue), about 6% has the Zappella variant (dots), about 2.5% has the congenital variant of RTT (crosses), and about 0.5% has the early-onset seizure variant (stars); among the CDKL5-mutated patients (green), about 3% of the patients has other atypical forms of RTT (dots and crosses); and among the FOXG1-mutated patients (pink), about 7% of patients has the classic form (triangles).