CDKL5 Proband Search Results



cDNA name Protein name Pathogenicity class Phenotype Gender Reference Proband ID
c.533G>C p.Arg178Pro pathogenic variant Not Rett syndrome - Severe encephalopathy and early-onset seizures Male 18809835 Elia et al (2008) cp91
c.863C>T p.Thr288Ile pathogenic variant Not Rett syndrome - Severe encephalopathy and early-onset seizures Male 18809835 Elia et al (2008) cp90
c.872G>A p.Cys291Tyr variant of uncertain significance Not Rett syndrome - Severe encephalopathy and early-onset seizures Male 18809835 Elia et al (2008) cp89
c.872G>A p.Cys291Tyr pathogenic variant Not Rett syndrome - Severe encephalopathy and early-onset seizures Male 18809835 Elia et al (2008) cp89

Displaying 4 entries