Global Variome shared LOVD

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

Phenotype #0000000562 Individual ID 00001130 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination 00y00m15d (15 days) Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details asympt. disease course, none disability Protein - Biochem High excretor Enzyme/Activity GCDH activity: 0% of controls Owner name Katrin Hinderhofer Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2013-04-17 17:21:21 +02:00 (CEST) Date last edited 2019-02-22 12:02:11 +01:00 (CET)

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