Term Name: | Rubinstein-Taybi syndrome |
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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 ) |