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