Phenotype #0000343260

Individual ID 00454619
Associated disease GA1
Inheritance Unknown
Age/Onset 07y03m
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis 07y03m
Phenotype/Onset -
Phenotype details asymptomatic; age of onset 7.25y;
Imaging: CT MRI typical;
Protein -
Biochem Glutaric acid excretion increased; Tandem C0 decreased 8.82 µmol/l; tandem C5DC increased 1.54 µmol/l
Enzyme/Activity -
Owner name Sabrina Oeser
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Sabrina Oeser
Date created 2024-09-20 14:39:50 +02:00 (CEST)
Date last edited N/A

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