Phenotype #0000311245

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00419999
Associated disease	AGS
Phenotype details	see paper; ..., aged appearance, prematurely gray hair, scleroderma-like skin, spastic paraplegia, apparent disability
Diagnosis/Initial	Aicardi-Goutieres syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	AGS5
Age/Examination	28y (28 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-10-30 10:11:09 +01:00 (CET)
Date last edited	N/A

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