Rubinstein-Taybi syndrome

Term ID

DOID:1933

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. (3)

References

• GARD:7593
• ICD10CM:Q87.2
• MESH:D012415
• MIM:180849
• MIM:610543
• MIM:613684
• NCI:C75466
• ORDO:783
• SNOMEDCT_US_2023_03_01:157032007
• UMLS_CUI:C0035934

Ontology

Human Disease   ( DOID:1933 )