Phenotype #0000083951

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00106140
Associated disease	MTCHRS
Phenotype details	duodenal atresia, intestinal malrotation, jejunal perforation, diarrhea unresponsive to pancreatic supplements, gall bladder agenesis, cholestasis, anular pancreas, fluctuating glycemia
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Martina Skopkova
Database submission license
Created by	Martina Skopkova
Date created	2017-06-30 11:37:28 +02:00 (CEST)
Date last edited	N/A

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