Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000021087 Individual ID 00024967 Associated disease HFE1 Phenotype details hemochromatosis, juvenile; fatigue, hypogonadotropic hypogonadism, hyperpigmentation, mild elevation liver transaminases, idiopathic thrombocytopenic purpura, mild normocytic anemia and lymphopenia; elevated hepatic iron (0012465) phlebotomy >12g Fe over 4y Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 29y (29 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Dan Yin Database submission license No license selected Created by Ann Walker Date created 2013-05-29 12:17:29 +02:00 (CEST) Date last edited 2020-05-05 19:11:26 +02:00 (CEST)

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