Phenotype #0000230563

Individual ID 00303483
Associated disease HLH
Diagnosis/Initial hemophagocytic lymphohistiocytosis
Diagnosis/Definite -
Phenotype details see paper; ..., fever; skin rash; no facial dysmorphism; failure to thrive; hepatomegaly; splenomegaly; no CNS inflammatory disease, increased CSF protein and MRI with leptomeningitis; small intestine inflammation; no cardiac abnormalities; hemophagocytic lymphohistiocytosis ; anemia; thrombocytopenia, transfusion dependent; profound neutropenia; acute-phase response; BM dysplasia; 1y6m-died
Inheritance Isolated (sporadic)
Age/Examination 01y06m (1 year, 6 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2020-06-13 08:59:14 +02:00 (CEST)
Date last edited 2020-06-13 09:15:30 +02:00 (CEST)

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