Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1132G>T | p.Ala378Ser | Female | in son with developmental delay | Not Rett synd. | 6581 | ::: |
2 | c.1132G>T | p.Ala378Ser | Male | in unaffected mother | Not Rett synd. | 6580 | ::: |