CDKL5 Proband Search Results



cDNA name Protein name Pathogenicity class Phenotype Gender Reference Proband ID
c.99+5G>A p.Ala23Asnfs*3 pathogenic variant Not Rett syndrome - early-onset epilepsy with severe intellectual disability Female 21765152 Stalpers et al (2012) cp331
c.275_276insAA p.Glu93Metfs*21 pathogenic variant Not Rett syndrome - early-onset epilepsy with severe intellectual disability Female 21765152 Stalpers et al (2012) cp330
c.283-3_290del11 p.Asn95Ilefs*2 pathogenic variant Not Rett syndrome - early-onset epilepsy with severe intellectual disability Female 21765152 Stalpers et al (2012) cp333
c.1784dupG p.Leu596Thrfs*15 pathogenic variant Not Rett syndrome - early-onset epilepsy with severe intellectual disability Female 21765152 Stalpers et al (2012) cp334
c.2105_2106delAC p.His702Profs*4 pathogenic variant Not Rett syndrome - early-onset epilepsy with severe intellectual disability Female 21765152 Stalpers et al (2012) cp332

Displaying 5 entries