CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.145+2T>C | p.? | pathogenic variant | Rett syndrome - early-onset seizure | Female | 18063413 Pintaudi et al (2008) | cp63 |
c.1648C>T | p.Arg550* | pathogenic variant | Rett syndrome - early-onset seizure | Female | 18063413 Pintaudi et al (2008) | cp62 |
Displaying 2 entries