Rubinstein-Taybi syndrome (DOID:1933)
Alliance: disease page
Synonyms: Broad Thumb-Hallux syndrome; proximal chromosome 16p13.3 deletion syndrome; Rubinstein syndrome
Alt IDs: OMIM:180849, OMIM:610543, OMIM:613684, ICD10CM:Q87.2, MESH:D012415, NCI:C75466, ORDO:783, UMLS_CUI:C0035934
Definition: A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.