Phenotype #0000338902

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00449741
Associated disease	GA1
Inheritance	Unknown
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	00y11m
Phenotype/Onset	-
Phenotype details	Clinical findings: seizures, hyotonia, neurological regression, cognitive deficit; Imaging: widening of CSF spaces;
Protein	-
Biochem	Biochemical findings: C5DC 1.0 µmol/l, glutaric acid high, 3-hydroxy-glutaric acid high
Enzyme/Activity	-
Owner name	Sabrina Oeser
Database submission license
Created by	Sabrina Oeser
Date created	2024-05-08 13:52:07 +02:00 (CEST)
Date last edited	N/A

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