DISEASE NAME | Rubinstein-Taybi syndrome |
DISEASE CATEGORY (ICD10) | Congenital malformations, deformations and chromosomal abnormalities |
DISEASE ID (ICD10) | Q87.2 |
DISEASE ID (OMIM) | 601493; 601494; 604169; 609470; 611878; 613424; 613426; 615092; 615373; 615396; 180849; 610543; 613684 |
1 combination linked to 783 | OLI232 |
1 gene combination linked to 783 | ABCC9; TTN |
ORPHANET ID | 783 |