CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.[=/2377-1569_2497-285delins38/2497-289_2713+3834del4342] | p.[=/Val793Thrfs*22/Ser833Thrfs*22] | pathogenic variant | Not Rett syndrome - infantile spasms, CDKL5-related phenotype | Female | 24715584 Boutry-Kryza et al (2014) | cp419 |
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