CDKL5 Proband Search Results



cDNA name Protein name Pathogenicity class Phenotype Gender Reference Proband ID
c.283-3_290del11 p.Asn95Ilefs*2 pathogenic variant Rett syndrome - atypical Female 23151060 Hagebeuk et al (2013) cp407
c.656A>C p.Gln219Pro likely pathogenic variant Rett syndrome - atypical Female 23151060 Hagebeuk et al (2013) cp405
c.660_664dup p.Thr222Ilefs*8 pathogenic variant Rett syndrome - atypical Female 23151060 Hagebeuk et al (2013) cp406
c.2635_2636delCT p.Leu879Glufs*30 pathogenic variant Rett syndrome - atypical Female 23151060 Hagebeuk et al (2013) cp408

Displaying 4 entries