CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.183delT | p.Met63Cysfs*13 | pathogenic variant | Not Rett syndrome - sporadic mental retardation | Male | 15492925 Weaving et al (2004) | cp1 |
c.183delT | p.Met63Cysfs*13 | pathogenic variant | Rett syndrome - atypical | Female | 15492925 Weaving et al (2004) | cp2 |
c.183delT | p.Met63Cysfs*13 | pathogenic variant | Not Rett syndrome - autism only | Female | 15492925 Weaving et al (2004) | cp3 |
c.2047-1G>A | p.Gly683Valfs*101 | pathogenic variant | Rett syndrome - atypical | Female | 15492925 Weaving et al (2004) | cp4 |
Displaying 4 entries