CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.400C>T | p.Arg134* | pathogenic variant | Not Rett syndrome - early-onset seizures and mental retardation | Female | 21318334 Rademacher et al (2011) | cp223 |
c.884delC | p.Pro295Leufs*55 | pathogenic variant | Not Rett syndrome - early-onset seizures and mental retardation | Female | 21318334 Rademacher et al (2011) | cp220 |
c.1082dupC | p.Ala362Cysfs*3 | pathogenic variant | Not Rett syndrome - early-onset seizures and mental retardation | Female | 21318334 Rademacher et al (2011) | cp221 |
c.1648C>T | p.Arg550* | pathogenic variant | Not Rett syndrome - early-onset seizures and mental retardation | Female | 21318334 Rademacher et al (2011) | cp224 |
c.2529delA | p.Leu843Phefs*20 | pathogenic variant | Not Rett syndrome - early-onset seizures and mental retardation | Female | 21318334 Rademacher et al (2011) | cp222 |
Displaying 5 entries