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