Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Definition
Any Alagille syndrome due to a variation in the JAG1 gene that affects many organ systems including the liver, heart, skeleton, eyes and kidneys.
Also known as Alagille syndrome due to a JAG1 point mutation, Alagille syndrome type 1, Alagille syndrome-JAG1, Alagille-Watson syndrome due to a JAG1 point mutation, arteriohepatic dysplasia due to a JAG1 point mutation, syndromic bile duct paucity due to a JAG1 point mutation — per MONDO