Phenotype #0000338949

Individual ID 00449803
Associated disease GA1
Inheritance Unknown
Age/Onset -
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis 00y10m
Phenotype/Onset -
Phenotype details Clinical findings: seizures, important neurological regression, motor and feeding difficulty, hypoactivity and hyporeflexia;
Imaging: frontal atrophy,bilateral widening of the Sylvian fissures;
Protein -
Biochem Biochemical findings: C5DC 0.9 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 13:48:20 +02:00 (CEST)
Date last edited N/A

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