Global Variome shared LOVD

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

Phenotype #0000015141 Individual ID 00016526 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details Severely affected Protein - Biochem - Enzyme/Activity GCDH activity (fibroblasts): <0.5 % of controls Owner name Svenja Wagner Database submission license No license selected Created by Svenja Wagner Date created 2014-04-29 15:43:57 +02:00 (CEST) Date last edited 2019-01-15 14:45:36 +01:00 (CET)

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