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