Phenotype #0000174753

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00234333
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	Clinically healthy, no episodes of metabolic decompensation
Protein	-
Biochem	conjugated glutarate(urine): slightly elevated
Enzyme/Activity	3-6% of normal controls (isolated leukozytes and cultured fibroblasts)
Owner name	Isabelle Rinke
Database submission license	No license selected
Created by	Isabelle Rinke
Date created	2019-05-08 11:58:11 +02:00 (CEST)
Date last edited	2019-05-08 12:25:50 +02:00 (CEST)

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