Global Variome shared LOVD

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

Phenotype #0000155182 Individual ID 00207409 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details Outcome at age 07y06m: Normal developm.; No signs of neurologic complications evident during examinations at 04m, 05y and 07y Protein - Biochem GA(urine): high, glutarylcarnitine(dried blood spot): 1.95nmol/ml Enzyme/Activity ≤ 5% (lymphoblasts) Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-11-21 17:21:42 +01:00 (CET) Date last edited 2018-11-22 15:18:04 +01:00 (CET)

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