Phenotype #0000002901

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00004161
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	?
Diagnosis/Initial	-
Age/Examination	?
Diagnosis/Definite	-
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	The Island Lake patients excrete low levels of urinary glutaric acid and 3-hydroxyglutaric acid and have significant residual enzyme activity (4-13%).
Protein	-
Biochem	-
Enzyme/Activity	-
Owner name	Svenja Wagner
Database submission license	No license selected
Created by	Svenja Wagner
Date created	2014-01-09 15:11:58 +01:00 (CET)
Date last edited	2014-04-02 14:45:54 +02:00 (CEST)

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