Phenotype #0000010378

Individual ID 00011691
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset 00y11m
Diagnosis/Initial -
Age/Examination 02y00m (2 years)
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details transient retardation, dystonia, seizure, macrocephaly, MRI: leukoencephalopathy
Protein -
Biochem glutarylcarnitine(blood): 2.41 µM/L (c: 0.02-0.20); 3-OH-GA(urine): 2.15 (fold change vs. normal control); GA(urine): 1286.05 (fold change vs. normal control)
Enzyme/Activity -
Owner name Svenja Wagner
Database submission license No license selected
Created by Svenja Wagner
Date created 2014-02-20 13:41:03 +01:00 (CET)
Date last edited 2014-04-28 13:32:55 +02:00 (CEST)

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