Phenotype #0000343259

Individual ID 00454618
Associated disease GA1
Inheritance Unknown
Age/Onset 01y00m
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset 10y04m
Phenotype details symptomatic; age of onset 1y; triggering event: infection;
Clinical symptoms: retardation, speech delay;
Phenotype: mild motor-mental retardation;
Imaging: CT MRI typical;
Protein -
Biochem Glutaric acid excretion increased; Tandem C0 decreased 8.82 µmol/l; tandem C5DC increased 0.47 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 14:33:11 +02:00 (CEST)
Date last edited N/A

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