CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.163_166delGAAA | p.Glu55Argfs*20 | pathogenic variant | Rett syndrome - early seizure | Female | 15689447 Scala et al (2005) | cp19 |
c.2635_2636delCT | p.Leu879Glufs*30 | pathogenic variant | Rett syndrome - early seizure | Female | 15689447 Scala et al (2005) | cp20 |
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