Johanson-Blizzard Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - JBS