Global Variome shared LOVD

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

Phenotype #0000343227 Individual ID 00454580 Associated disease GA1 Inheritance Unknown Age/Onset 00y08m Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 00y18m Phenotype/Onset - Phenotype details Clinical features: seizure, encephalopathy, dystonia, neuroregression, no prior developemental delay; small head; Imaging: Bilateral symmetric striatal changes Protein - Biochem C5DC 0.9 µmol/l; glutaric acid excretion 320 mmol GA/mol creatinine Enzyme/Activity - Owner name Sabrina Oeser Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Sabrina Oeser Date created 2024-09-17 13:30:29 +02:00 (CEST) Date last edited N/A

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