label: Johanson-Blizzard Syndrome
label_lc: johanson-blizzard syndrome
description: An extremely rare autosomal recessive condition caused by mutation(s) in the UBR1 gene, encoding E3 ubiquitin-protein ligase UBR1. It is characterized by failure to thrive, often due to pancreatic insufficiency, craniofacial abnormalities, and intellectual disability.