Phenotype #0000338951

Individual ID 00449805
Associated disease GA1
Inheritance Unknown
Age/Onset -
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis 00y06m
Phenotype/Onset -
Phenotype details Clinical findings: seizures, hypertonia, macrocephaly, dystonia, neurological regression, feeding difficulty;
Imaging: frontal atrophy, periventricular and basal ganglia hyperintensitivity;
Protein -
Biochem Biochemical findings: C5DC 0.34 µmol/l, glutaric acid high, 3-hydroxy-glutaric acid high
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 2024-05-15 14:09:24 +02:00 (CEST)
Date last edited N/A

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