Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.27-?_(378_1461)del | p.Arg9fs | Female | Rett syndrome-Classical | 2081 | :Cardiff, UK:: | |
2 | c.27-?_(378_1461)del | p.Arg9fs | Female | Rett syndrome-Classical | 2082 | :Cardiff, UK:: |