Phenotype #0000257129

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00361727
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	CDG2N
Inheritance	Familial, autosomal recessive
Phenotype details	see paper; ..., cranial asymmetry, severe infantile spasms with hypsarrhythmia, dysproportionate dwarfism
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-04-08 11:48:33 +02:00 (CEST)
Date last edited	N/A

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