CDKL5 Proband Search Results



cDNA name Protein name Pathogenicity class Phenotype Gender Reference Proband ID
c.[=/-253-?_99+?del] p.[=/Met1?] pathogenic variant Not Rett syndrome - severe developmental delay with possible regression Male 21293276 Bartnik et al (2011) cp227
c.[=/-253-?_2276+?del] p.[=/Met1?] pathogenic variant Not Rett syndrome - severe intellectual disability, autism, intractable seizures Female 21293276 Bartnik et al (2011) cp229
c.100-?_145+?del p.(Glu34Lysfs*27) pathogenic variant Not Rett syndrome - intractable epilpsy, psychomotor retardation, hypotonia Female 21293276 Bartnik et al (2011) cp228

Displaying 3 entries