Phenotype #0000041520

Individual ID	00054857
Associated disease	MTCHRS
Phenotype details	born 35w, small (2nd percentile); 1d-duodenal atresia surgically corrected, gall bladder agenesis noted during surgery; 8d-insulin treatment after persistent hyperglycemia with low C-peptide levels, normal feeding but failed to thrive, developed hyperbilirubinemia; liver biopsy cholestatic disease, no biliary atresia on cholangiography but portal areas oedematous/narrowed by bile plugs; 11m-hyperbilirubinemia gradually resolved without signs liver disease; 4y6m-alive, insulin dependent
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	00y00m00d
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2015-11-28 11:44:53 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD