Phenotype #0000041523

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00054860
Associated disease	MTCHRS
Phenotype details	intestinal atresia, intestinal malrotation, intrauterine growth restriction, gall bladder agenesis, hemochromatosis; 3d-insulin treatment, low C-peptide levels were low; 3m-died
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	?
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2015-11-28 12:49:32 +01:00 (CET)
Date last edited	N/A

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