Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | CDKL5: c.119C>T | CDKL5: p.A40V | Female | Not Rett synd. | 6582 | ::: |
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | CDKL5: c.119C>T | CDKL5: p.A40V | Female | Not Rett synd. | 6582 | ::: |