Phenotype #0000187793

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00248825
Associated disease	AGS
Phenotype details	see paper; …, intracranial calcification, white matter abnormalities, hepatosplenomegaly, cerebrospinal fluid lymphocytosis, elevated interferon-α levels
Diagnosis/Initial	Aicardi-Goutieres syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	AGS-3
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-07-28 13:09:43 +02:00 (CEST)
Date last edited	N/A

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