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

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