CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.-253-?_99+?del | p.Met1? | pathogenic variant | Not Rett syndrome - early-onset seizures | Female | 19471977 Erez et al (2009) | cp266 |
c.-162-?_145+?del | p.Met1? | pathogenic variant | Not Rett syndrome - early-onset seizures | Female | 19471977 Erez et al (2009) | cp267 |
c.-162-?_99+?del | p.Met1? | pathogenic variant | Not Rett syndrome - early-onset seizures | Female | 19471977 Erez et al (2009) | cp268 |
Displaying 3 entries