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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