Global Variome shared LOVD

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Phenotype #0000338866 Individual ID 00449695 Associated disease SCID Diagnosis/Initial SCID-Omenn syndrome Diagnosis/Definite - Phenotype details see paper; ..., failure to thrive; diarrhea; <7d-skin rash; recurrent infections; no systemic inflammation; no hepatomegaly; lymphadenopathy; alopecia; dysmorphic (overfolded helices, hypoplasia alea nasi, cone-shaped teeth, hypodontia); 12w-hematopoietic stem cell transplantation Inheritance Isolated (sporadic) Age/Examination 18y (18 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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