Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1162_1179del18 | p.Pro388_Pro393del | Female | Rett syndrome-Atypical | 2183 | :Cardiff, UK:: | |
2 | c.1162_1179del18 | p.Pro388_Pro393del | Male | in daughter with another pathogenic mutation | Not Rett synd. | 4714 | Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 |