Phenotype #0000144772

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Ilse van der Werf

Individual ID	00184642
Associated disease	CCDS2;GAMTD
Phenotype details	-
Diagnosis/Initial	GAMT deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CCDS-2
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Gajja Salomons
Database submission license	No license selected
Created by	Gajja Salomons
Date created	2016-01-05 14:33:53 +01:00 (CET)
Date last edited	N/A

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