Global Variome shared LOVD

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Phenotype #0000338869 Individual ID 00449698 Associated disease SCID Diagnosis/Initial SCID-Omenn syndrome Diagnosis/Definite - Phenotype details see paper; ..., 11w-deceased; failure to thrive; diarrhea; 7d-skin rash; recurrent infections; no systemic inflammation; hepatomegaly; no lymphadenopathy; alopecia; no dysmorphism; 16w-hematopoietic stem cell transplantation Inheritance Isolated (sporadic) Age/Examination 13y (13 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 2024-05-02 19:29:38 +02:00 (CEST) Date last edited N/A

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