Global Variome shared LOVD

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Phenotype #0000230564 Individual ID 00303484 Associated disease HLH Diagnosis/Initial hemophagocytic lymphohistiocytosis Diagnosis/Definite - Phenotype details see paper; ..., fever; skin rash; no facial dysmorphism; failure to thrive; hepatomegaly; no splenomegaly; no CNS inflammatory disease; severe, unremitting enterocolitis from birth, diarrhea with intestinal bleedings and infarctions; no cardiac abnormalities; hemophagocytic lymphohistiocytosis ; anemia; thrombocytopenia, transfusion dependent; mild neutropenia; acute-phase response; BM dysplasia; very small thymus; arthritis; 4.5m-died Inheritance Isolated (sporadic) Age/Examination 00y04m15d (4 months, 15 days) 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 2020-06-13 08:59:14 +02:00 (CEST) Date last edited 2020-06-13 09:15:49 +02:00 (CEST)

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