CDKL5 Proband Search Results



cDNA name Protein name Pathogenicity class Phenotype Gender Reference Proband ID
c.234delA p.Arg80Valfs*33 pathogenic variant Not Rett syndrome - early-onset epileptic encephalopathy Female 24564546 Zhao et al (2014) cp451
c.533G>A p.Arg178Gln pathogenic variant Not Rett syndrome - infantile spasms Male 24564546 Zhao et al (2014) cp449
c.890_891dupTT p.Gln298Phefs*53 pathogenic variant Rett syndrome - atypical, early onset seizures Female 24564546 Zhao et al (2014) cp447
c.890_891dupTT p.Gln298Phefs*53 pathogenic variant Rett syndrome - atypical, early onset seizures Female 24564546 Zhao et al (2014) cp448
c.1111delC p.Ala372Leufs*121 pathogenic variant Rett syndrome - atypical, early onset seizures Female 24564546 Zhao et al (2014) cp445
c.1790dupG p.Tyr598Leufs*13 pathogenic variant Rett syndrome - atypical, early onset seizures Female 24564546 Zhao et al (2014) cp446
c.2360delA p.Lys787Argfs*16 pathogenic variant Not Rett syndrome - early-onset epileptic encephalopathy Female 24564546 Zhao et al (2014) cp450

Displaying 7 entries