Global Variome shared LOVD

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Phenotype #0000021115 Individual ID 00024995 Associated disease HRFTC Phenotype details hyperferritinemia, cataract; early-onset bilateral cataract, slit-lamp examination demonstrated lens deposits of dust-like spots (pulverulent cataract); elevated circulating ferritin levels; genetic hemochromatosis excluded by liver biopsy (no iron overload but hepatocytes heavy lipofuscin pigment deposit) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2014-11-30 15:49:40 +01:00 (CET) Date last edited N/A

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