Phenotype #0000230005

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	00230994
Associated disease	CDG
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	MRX106
Phenotype details	see paper; ...
Inheritance	Isolated (sporadic)
Age/Examination	07y08m (7 years, 8 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Sander Pajusalu
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-04 12:52:29 +02:00 (CEST)
Date last edited	N/A

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