Global Variome shared LOVD

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

Phenotype #0000014980 Individual ID 00016380 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 01y00m Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details wide sylvian fissures; abnormal caudate/putamen; dystonia; wheelchair Protein - Biochem glutarylcarnitine(blood): 0.11+/-0.04 µmol/l (c:0.0-0.7); 3-OH-GA(urine): avg 55+/-33 mmol/mol creatinine; GA(urine): avg 11+/-5 mmol/mol creatinine (high excretor: GA > 100mmol/mol creatinine) Enzyme/Activity - Owner name Svenja Wagner Database submission license No license selected Created by Svenja Wagner Date created 2014-03-31 13:57:50 +02:00 (CEST) Date last edited 2014-04-09 15:26:00 +02:00 (CEST)

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