Global Variome shared LOVD

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Phenotype #0000338870 Individual ID 00449699 Associated disease SCID Diagnosis/Initial SCID-Omenn syndrome Diagnosis/Definite - Phenotype details see paper; ..., 4y-deceased; failure to thrive; diarrhea; 56d-skin rash; recurrent infections; no systemic inflammation; no hepatomegaly; lymphadenopathy; no dysmorphism; 12w-hematopoietic stem cell transplantation Inheritance Isolated (sporadic) Age/Examination 4y (4 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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