CDKL5 Proband Search Results



cDNA name Protein name Pathogenicity class Phenotype Gender Reference Proband ID
c.215T>C p.Ile72Thr likely pathogenic variant Rett syndrome - atypical Female 19396824 Saletti et al (2009) cp138
c.215T>C p.Ile72Thr likely pathogenic variant Rett syndrome - atypical Female 19396824 Saletti et al (2009) cp138

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