Phenotype #0000346347

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00457897
Associated disease	ALXDRD
Phenotype details	4m-deceased; macrocephaly; seizures; no spasticity; no bulbar/pseudobulbar signs; pathology from autopsy;
Diagnosis/Initial	Alexander disease, infantile
Inheritance	Isolated (sporadic)
Diagnosis/Definite	ALXDRD
Age/Examination	4m
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-11-20 19:58:24 +01:00 (CET)
Date last edited	N/A

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