CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.-253-?_*1085del | p.Met1? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Male | 20493745 Castren et al (2011) | cp196 |
c.-253-?_*1085del | p.? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Male | 20493745 Castren et al (2011) | cp196 |
c.175C>T | p.Arg59* | pathogenic variant | Rett syndrome - early-onset seizures | Female | 20493745 Castren et al (2011) | cp195 |
Displaying 3 entries