CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.-253-?_99+?del | p.Met1? | pathogenic variant | Not Rett syndrome - X-linked infantile spasm syndrome | Female | 19807736 Cordova-Fletes et al (2010) | cp141 |
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