Alagille syndrome due to a jag1 point mutation

An autosomal dominant genetic syndrome caused by mutations in the JAG1 gene. It is characterized by cholestatic jaundice in infancy, hepatosplenomegaly, distinctive facial features (prominent forehead, elongated nose, and pointed chin), cardiac murmurs, bone malformations, and sometimes mild mental retardation.

Disease Alternative Name

arteriohepatic dysplasia
alagille syndrome

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