Phenotype #0000021078

Individual ID 00024958
Associated disease HFE3
Phenotype details see paper; all patients had increased transferrin saturation and serum ferritin and most had disease-related clinical complications; affected siblings had skin pigmentation and abnormal liver function tests; PatV11 had arthritis and histologically documented cirrhosis
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2014-11-28 21:43:46 +01:00 (CET)
Date last edited 2014-11-28 22:14:50 +01:00 (CET)

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