Phenotype #0000346289

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00457841
Associated disease	ALXDRD
Phenotype details	see paper; ..., progressive megalencephaly, OFC SD+3; 6m-delayed psychomotor development; recurrent seizures; MRI rostrocaudal gradient abnormal white matter signal
Diagnosis/Initial	infantile disease Alexander disease
Inheritance	Isolated (sporadic)
Diagnosis/Definite	ALXDRD
Age/Examination	5.5y
Age/Diagnosis	-
Age/Onset	3m
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-11-20 12:59:57 +01:00 (CET)
Date last edited	N/A

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