Global Variome shared LOVD

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

Phenotype #0000010372 Individual ID 00011685 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y06m Diagnosis/Initial - Age/Examination 01y00m (1 year) Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details retardation, dystonia, macrocephaly, MRI: bilateral lentiform nucleus degeneration Protein - Biochem 3-OH-GA(urine): 4.9 (fold change vs. normal control); GA(urine): 1525.0 (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 10:36:09 +01:00 (CET) Date last edited 2014-04-10 10:58:15 +02:00 (CEST)

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