Global Variome shared LOVD

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

Phenotype #0000338900 Individual ID 00449737 Associated disease GA1 Inheritance Unknown Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 00y11m Phenotype/Onset - Phenotype details Clinical findings: seizures, hypotonia, neurological regression, progressive encephalopathy; Imaging: bilateral widening of the Sylvian fissures, white matter hypersignal; Protein - Biochem Biochemical findings: C5DC 0.2 µmol/l, glutaric acid normal, 3-hydroxy-glutaric acid high Enzyme/Activity - Owner name Sabrina Oeser Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Sabrina Oeser Date created 2024-05-08 11:42:19 +02:00 (CEST) Date last edited N/A

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