Individual ID |
00303482 |
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; chronic diarrhea; no cardiac abnormalities; hemophagocytic lymphohistiocytosis ; anemia; thrombocytopenia, intermittent transfusion during flares; profound neutropenia; monocytopenia; acute-phase response; BM dysplasia; 6m-died |
Inheritance |
Isolated (sporadic) |
Age/Examination |
00y06m (6 months) |
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 09:15:08 +02:00 (CEST) |