Phenotype #0000174481

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00234060
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	00y03m
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	Metabolic crisis, movement dysfunction, convulsions
Protein	-
Biochem	GA(urine): 22288.60 times higher than healthy control
Enzyme/Activity	-
Owner name	Isabelle Rinke
Database submission license	No license selected
Created by	Isabelle Rinke
Date created	2019-05-06 09:49:19 +02:00 (CEST)
Date last edited	N/A

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