PedAM
Pediatric Disease Annotations & Medicines
| Disease | intellectual disability |
| Phenotype | C0035372|rett syndrome |
| Sentences | 4 |
| PubMedID- 23272938 | Cases positive for mutations causing fragile x and rett syndrome (common causes of intellectual disability and autistic features in children) addressed by molecular genetic techniques (pcr/qpcr and direct sequencing of the mecp2 gene) were ruled out. |
| PubMedID- 23705018 | Mutations in the coding sequence of the x-linked gene mecp2 (methyl cpg-binding protein) are present in around 80% of patients with rett syndrome, a common cause of intellectual disability in female and to date without any effective pharmacological treatment. |
| PubMedID- 25914188 | Mutations in epilepsy and intellectual disability genes in patients with features of rett syndrome. |
| PubMedID- 26181491 | From these, two de novo jmjd1c germline mutations were identified in a case of rett syndrome and in a patient with intellectual disability. |
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