Global Variome shared LOVD

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

Phenotype #0000166498 Individual ID 00218049 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination 05y (5 years) Diagnosis/Definite - Age/Diagnosis 00y00m21d Phenotype/Onset - Phenotype details Never had an acute metabolic decompensation; Outcome: Ambulatory, feeds by mouth, verbal communication Protein - Biochem GA(urine): elevated; 3-OH-GA(urine): small baseline; glutarylcarnitine(NBS): 1.07µM Enzyme/Activity 0% Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-01-17 13:55:27 +01:00 (CET) Date last edited N/A

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