Phenotype #0000021116

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00024996
Associated disease	HRFTC
Phenotype details	hyperferritinemia (1,000 wg/L), no evidence iron overload (serum iron/transferrin saturation normal; blood cell counts and acute phase reactant normal; hereditary cataract (incl. father, grandfather); father hyperfemtinemia (780,ug/L)
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	08y (8 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2014-11-30 16:02:34 +01:00 (CET)
Date last edited	N/A

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