Phenotype #0000010380

Individual ID 00011693
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset 01y00m
Diagnosis/Initial -
Age/Examination 01y03m (1 year, 3 months)
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details retardation, dystonia, macrocephaly, MRI: enlarged sylvian fissures
Protein -
Biochem glutarylcarnitine(blood): 0.31 µM/L (c: 0.02-0.20); 3-OH-GA(urine): 10.26 (fold change vs. normal control); GA(urine): 1068.54 (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 14:20:40 +01:00 (CET)
Date last edited 2014-04-28 13:44:03 +02:00 (CEST)

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