Phenotype #0000343246

Individual ID 00454605
Associated disease GA1
Inheritance Unknown
Age/Onset 00y07m
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis 00y08m
Phenotype/Onset -
Phenotype details symptomatic; age of onset 0.58y; triggering event: infection;
Clinical symptoms: seizures, dystonia;
Phenotype: macrocephaly, encephalopathic crises, moderate motor-mental retardation;
Imaging: CT MRI atypical;
Protein -
Biochem Glutaric acid excretion normal; Tandem C0 normal 16.96 µmol/l; tandem C5DC increased 0.73 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 13:16:07 +02:00 (CEST)
Date last edited N/A

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