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