Global Variome shared LOVD

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

Phenotype #0000343263 Individual ID 00454622 Associated disease GA1 Inheritance Unknown Age/Onset 10y00m Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 14y00m Phenotype/Onset - Phenotype details symptomatic; age of onset 10y; Clinical symptoms: hydrocephaly, dystonia, speech delay; Phenotype: macrocephaly, encephalopathic crises, mild motor-mental retardation; Imaging: CT MRI typical; Protein - Biochem Glutaric acid excretion increased; Tandem C0 decreased 1.93 µmol/l; tandem C5DC increased 0.32 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 14:54:02 +02:00 (CEST) Date last edited N/A

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