CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.404-1G>A | p.? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21309761 Melani et al (2011) | cp226 |
c.473G>C | p.Arg158Pro | likely pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Male | 21309761 Melani et al (2011) | cp225 |
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