Global Variome shared LOVD

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

Phenotype #0000144053 Individual ID 00183316 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination 00y05m (5 months) Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details Died (at unknown age), Symptoms: convulsions with fever (HP:0002373), dystonia (HP:0001332); Neuroimaging: Only basal ganglia lesions Protein - Biochem GA(urine):6mmol/mol creatinine; 3-OH-GA(urine):15mmol/mol creatinine; plasma free carnitine:18,1µmol/L; total carnitine: 30,5; glutarylcarnitine(blood):0,11µmol/L Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-10-22 17:59:01 +02:00 (CEST) Date last edited 2018-11-22 10:56:16 +01:00 (CET)

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