CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.[1675C>T];[=] | p.[Arg559*];[=] | pathogenic variant | Rett syndrome - early-onset seizures | Male | 19161156 Sartori et al (2009) | cp137 |
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