Global Variome shared LOVD

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

Phenotype #0000296142 Individual ID 00403402 Associated disease pyr.kin. deficiency Phenotype details splenectomy, not transfused; hemoglobin 6.4 g/dl; gallstones; iron overload Diagnosis/Initial pyruvate kinase deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 0y1m 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 2022-02-18 12:12:02 +01:00 (CET) Date last edited N/A

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