Global Variome shared LOVD

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

Phenotype #0000334546 Individual ID 00445318 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y05m? Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details age of onset 04.5m; trigger: vaccination; Clinical findings: subacute/acute encephalopathy, dystonia, seizure, cognitive delay, motor regression, no macrocephaly; Imaging: enlarged frontoparietotemporal spaces , bilateral caudate nucleus lesion , leukoencephalopathy , no bilateral temporal arachnoid cysts, no subdural fluid accumulation Protein - Biochem glutaric acid 997 mmol/mol creatinine, 3-hydrohyglutaric acid 110 mmol/mol creatinine, C5DC 1.7 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 2024-01-08 15:09:09 +01:00 (CET) Date last edited N/A

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