Global Variome shared LOVD

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

Phenotype #0000155511 Individual ID 00207721 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details Symptoms at age 01y01m: Asymptomatic, no macrocephaly; MRI: normal Protein - Biochem GA(urine): normal; 3-OH-GA(urine):11µg/mg creatinine; glutarylcarnitine(NBS):0.48µM; glutarylcarnitine(plasma): normal Enzyme/Activity Not done Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-11-30 13:02:39 +01:00 (CET) Date last edited N/A

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