Global Variome shared LOVD

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

Phenotype #0000010369 Individual ID 00011682 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y05m Diagnosis/Initial - Age/Examination 00y05m (5 months) Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details regression, dystonia, macrocephaly, MRI: leukoencephalopathy, left basal ganglia degeneration, myelination delay Protein - Biochem glutarylcarnitine(blood): 0.39 µM/L (c: 0.02-0.20); 3-OH-GA(urine): 25.64 (fold change vs. normal control); GA(urine): 1180.24 (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 09:17:49 +01:00 (CET) Date last edited 2014-04-09 15:58:52 +02:00 (CEST)

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