Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation | TAB2 | Causal | Disgenet, Orphanet |