CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.146-?_*1085del | p.? | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 21802232 Saitsu et al (2012) | cp205 |
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