CDKL5 Proband Search Results



cDNA name Protein name Pathogenicity class Phenotype Gender Reference Proband ID
c.183delT p.Met63Cysfs*13 pathogenic variant Not Rett syndrome - sporadic mental retardation Male 15492925 Weaving et al (2004) cp1
c.183delT p.Met63Cysfs*13 pathogenic variant Rett syndrome - atypical Female 15492925 Weaving et al (2004) cp2
c.183delT p.Met63Cysfs*13 pathogenic variant Not Rett syndrome - autism only Female 15492925 Weaving et al (2004) cp3
c.2047-1G>A p.Gly683Valfs*101 pathogenic variant Rett syndrome - atypical Female 15492925 Weaving et al (2004) cp4

Displaying 4 entries