Global Variome shared LOVD

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Phenotype #0000230561 Individual ID 00303481 Associated disease HLH Diagnosis/Initial hemophagocytic lymphohistiocytosis Diagnosis/Definite - Phenotype details see paper; ..., fever; skin rash; no facial dysmorphism; failure to thrive; hepatomegaly; splenomegaly; CNS inflammatory disease, 2y-3 episodes with generalized seizures, white and gray matter lesions in MR; gastrointestinal symptoms diarrhea, 11m-intestinal bleeding, 5y-intestinal infarction; no cardiac abnormalities; hemophagocytic lymphohistiocytosis ; anemia; thrombocytopenia, constant transfusion dependent V2y; profound neutropenia; monocytopenia; acute-phase response; BM dysplasia; suspected trigonocephaly Inheritance Isolated (sporadic) Age/Examination 06y (6 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 2020-06-13 08:59:14 +02:00 (CEST) Date last edited 2020-06-13 09:14:45 +02:00 (CEST)

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