Global Variome shared LOVD

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

Phenotype #0000343252 Individual ID 00454611 Associated disease GA1 Inheritance Unknown Age/Onset 00y01m Diagnosis/Initial - Age/Examination - Diagnosis/Definite 00y01m Age/Diagnosis - Phenotype/Onset - Phenotype details asymptomatic; age of onset 0.13y; Clinical symptoms: dystonia; Phenotype: macrocephaly, encephalopathic crises, severe motor-mental retardation; Imaging: CT MRI typical; Protein - Biochem Glutaric acid excretion increased; Tandem C0 decreased3.37 µmol/l; tandem C5DC normal 0.59 µmol/l Enzyme/Activity - Owner name Sabrina Oeser Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Sabrina Oeser Date created 2024-09-20 13:47:55 +02:00 (CEST) Date last edited N/A

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