Phenotype #0000325516

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	00435320
Associated disease	skeletal dysplasia
Diagnosis/Initial	NANS-CDG
Diagnosis/Definite	SEMDG
Phenotype details	see paper; ...
Inheritance	Familial, autosomal recessive
Age/Examination	09y03m (9 years, 3 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Yohei Masunaga
Database submission license
Created by	Johan den Dunnen
Date created	2023-06-30 11:03:57 +02:00 (CEST)
Date last edited	N/A

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