CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.175C>T | p.Arg59* | pathogenic variant | Rett syndrome - atypical | Female | 19740913 Ricciardi et al (2009) | cp107 |
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