CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.-253-?_-162-27968del | p.? | pathogenic variant | Rett syndrome - early onset seizures | Female | 19455595 Bahi-Buisson et al (2010) | cp139 |
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