| Term Name: | Rubinstein-Taybi syndrome |
|---|---|
| Synonyms: | Broad Thumb-Hallux syndrome, proximal chromosome 16p13.3 deletion syndrome, Rubinstein syndrome |
| Definition: | A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes. |
| Ontology: | Human Disease [DOID:1933] ( DOID:1933 ) |