CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.838_847del10 | p.Asp281Thrfs*4 | pathogenic variant | Rett syndrome - early seizure | Female | 15917271 Mari et al (2005) | cp21 |
c.2343delG | p.Arg781Serfs*3 | pathogenic variant | Rett syndrome - early seizure | Female | 15917271 Mari et al (2005) | cp22 |
Displaying 2 entries