Global Variome shared LOVD

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

Phenotype #0000334527 Individual ID 00445299 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y05m Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details trigger: infection; Clinical findings: acute encephalopathy, dystonia, no seizure, no cognitive delay, motor regression, macrocephaly; Imaging: enlarged frontoparietotemporal spaces, no bilateral caudate nucleus lesion, no leukoencephalopathy, bilateral temporal arachnoid cysts, no subdural fluid accumulation Protein - Biochem glutaric acid 1,645 mmol/mol creatinine, 3-hydrohyglutaric acid 1,097 mmol/mol creatinine, C5DC 1.97 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 14:17:49 +01:00 (CET) Date last edited N/A

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