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