CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.464-1G>A | p.? | pathogenic variant | Rett syndrome - early-onset seizure | Female | 22670143 Willemsen et al (2012) | cp342 |
Displaying 1 entries