Phenotype #0000338871

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00449700
Associated disease	SCID
Diagnosis/Initial	SCID-Omenn syndrome
Diagnosis/Definite	-
Phenotype details	see paper; ..., no failure to thrive; diarrhea; <7d-skin rash; no recurrent infections; no systemic inflammation; no hepatomegaly; no lymphadenopathy; no alopecia; no dysmorphism; 9w-hematopoietic stem cell transplantation
Inheritance	Isolated (sporadic)
Age/Examination	1y (1 year)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission 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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