Phenotype #0000155513

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00207723
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	No macrocephaly, no acute striatal injury
Protein	-
Biochem	GA(urine): 6.5µg/mg creatinine; 3-OH-GA(urine):50µg/mg creatinine; glutarylcarnitine(NBS):0.21µM; glutarylcarnitine(plasma):0.07µM
Enzyme/Activity	Not done
Owner name	Isabelle Rinke
Database submission license	No license selected
Created by	Isabelle Rinke
Date created	2018-11-30 13:13:29 +01:00 (CET)
Date last edited	N/A

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