Phenotype #0000166822

Individual ID	00218386
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	03y03m (3 years, 3 months)
Diagnosis/Definite	-
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	Asymptomatic; MRI (age ≤ 03m15d): Widening of Sylvian fissure, (for more details on MRI see full text)
Protein	-
Biochem	GA(urine) & 3-OH-GA(urine): elevated; glutarylcarnitine: 1.77µM
Enzyme/Activity	-
Owner name	Isabelle Rinke
Database submission license	No license selected
Created by	Isabelle Rinke
Date created	2019-01-25 13:33:02 +01:00 (CET)
Date last edited	N/A

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