Phenotype #0000338867

Individual ID 00449696
Associated disease SCID
Diagnosis/Initial SCID-Omenn syndrome
Diagnosis/Definite -
Phenotype details see paper; ..., 2y-deceased; failure to thrive; diarrhea; 14d-skin rash; recurrent infections; systemic inflammation; no hepatomegaly; no lymphadenopathy; alopecia; mild dysmorphic facial features (protruding ears, pointed chin), adducted left thumb, hypospadias, micropenis, dysplastic nails; 130w-hematopoietic stem cell transplantation
Inheritance Isolated (sporadic)
Age/Examination 2y (2 years)
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 2024-05-02 19:29:38 +02:00 (CEST)
Date last edited N/A

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