Global Variome shared LOVD

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Phenotype #0000325769 Individual ID 00435584 Associated disease HRFT Diagnosis/Initial hyperferritinemia Diagnosis/Definite - Phenotype details see paper; ..., hyperferritinemia without iron overload, high serum ferritin level, good health, no dysmorphologies,non psycho-motor development abnormalities,no hearing loss, no vision disorder, no history of high alcohol intake, no inherited or acquired causes of hyperferritinemia Inheritance Familial, autosomal recessive Age/Examination 32y (32 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-08-04 20:46:18 +02:00 (CEST) Date last edited N/A

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