Global Variome shared LOVD

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

Phenotype #0000333407 Individual ID 00444153 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details no clinical data available Protein - Biochem Biochemical findings: glutaric acid 1.85 mmol/mol creatinine, 3-hydrohyglutaric acid 5 mmol/mol creatinine, C5DC 0.82 µmol/l Enzyme/Activity not reported Owner name Sabrina Oeser Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Sabrina Oeser Date created 2023-12-19 15:59:49 +01:00 (CET) Date last edited N/A

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