Phenotype #0000308363

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00416853
Associated disease	AGS2
Phenotype details	brain magnetic resonance imaging: multiple intra cerebral calcifications on ct-scan; additional clinical featuresfeeding problems, short stature, seizures, spasticity, severe developmental delay
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Aicardi-Goutieres syndrome 2 [MIM 610181]
Age/Examination	5y (5 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-08 10:25:47 +02:00 (CEST)
Date last edited	N/A

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