Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

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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