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 )

Relationships
is a type of: autosomal dominant disease chromosomal deletion syndrome syndrome