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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