Phenotype #0000344745

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Individual ID	00456226
Associated disease	?
Diagnosis/Initial	lysosomal storage disorder
Diagnosis/Definite	CLN7
Phenotype details	see paper; ... (detailed)
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	2y
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-10-24 08:52:57 +02:00 (CEST)
Date last edited	N/A

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