Phenotype #0000155687

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00207906
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	06y
Phenotype/Onset	-
Phenotype details	Asymptomatic; Only diagnosed because of affected sister
Protein	-
Biochem	GA(urine) and 3-OH-GA(urine): increased; free acylcarnitine: markedly reduced; glutarylcarnitine(blood): increased (for more details see full text)
Enzyme/Activity	-
Owner name	Isabelle Rinke
Database submission license	No license selected
Created by	Isabelle Rinke
Date created	2018-12-03 12:45:36 +01:00 (CET)
Date last edited	N/A

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