CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.-253-?_977+?del | p.Met1? | pathogenic variant | Not Rett syndrome - severe encephalopathy | Male | 17256798 Van Esch et al (2007) | cp269 |
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