CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.-253-?_*1085del | p.Met1? | pathogenic variant | Rett syndrome - atypical | Female | 23828526 Ermel et al (2013) | cp421 |
c.-253-?_*1085del | p.? | pathogenic variant | Rett syndrome - atypical | Female | 23828526 Ermel et al (2013) | cp421 |
c.549dupA | p.Leu184Thrfs*22 | pathogenic variant | Not Rett syndrome - early-onset seizures | Female | 23828526 Ermel et al (2013) | cp420 |
Displaying 3 entries