CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.2497-?_*1085del | p.? | pathogenic variant | Not Rett syndrome - West syndrome | Female | 18564362 Nishimura et al (2009) | cp270 |
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