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 - early-onset epilepsy Female 22832775 Jahn et al (2013) cp418
c.-253-?_*1085del p.? pathogenic variant Not Rett syndrome - early-onset epilepsy Female 22832775 Jahn et al (2013) cp418
c.-162-?_64+?del p.Met1? pathogenic variant Not Rett syndrome - epileptic encephalopathy Female 22832775 Jahn et al (2013) cp344
c.207_213del7 p.Glu70Leufs*4 pathogenic variant Not Rett syndrome - epileptic encephalopathy Female 22832775 Jahn et al (2013) cp343

Displaying 4 entries