CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.191T>C | p.Leu64Pro | likely pathogenic variant | Not Rett syndrome - severe encephalopathy and early-onset seizures | Male | 19564592 Fichou et al (2009) | cp106 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - severe encephalopathy and early-onset seizures | Male | 19564592 Fichou et al (2009) | cp105 |
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