CDKL5 Proband Search Results



cDNA name Protein name Pathogenicity class Phenotype Gender Reference Proband ID
c.[2500C>T;2995G>A] p.Gln834* pathogenic variant Rett syndrome - early seizure Female 16813600 Nectoux et al (2006) cp54
c.2995G>A p.Val999Met benign variant Unaffected - unaffected family member Female 16813600 Nectoux et al (2006) cp55

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