Neonatal intrahepatic cholestasis due to citrin deficiency

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A mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.

Synonyms: NICCD Neonatal intrahepatic cholestasis caused by citrin deficiency

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Term information

database cross reference
hasDbXref

UMLS:C1853942

ICD-10:E72.2

OMIM:605814

notation

ORPHA:247598