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 - encephalopathy and early-onset seizures | Male | 20602487 Masliah-Plachon et al (2010) | cp140 |
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