CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.403+49_403+53delTTAAG | p.= | likely benign variant | Not Rett syndrome - Early-onset myoclonic epilepsy | Female | 19734009 Nabbout et al (2009) | cp108 |
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