Phenotype #0000334569

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00445341
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	18y
Phenotype/Onset	-
Phenotype details	Clinical findings:progressive leukoencephalopathy, cognitive deficit, neuropsychomotor regression, extrapyramidal symptoms (tremors); Imaging: –
Protein	-
Biochem	C5DC 0.89 µmol/l, glutaric acid high, 3-hydroxy-glutaric acid high
Enzyme/Activity	not reported
Owner name	Sabrina Oeser
Database submission license
Created by	Sabrina Oeser
Date created	2024-01-09 16:19:41 +01:00 (CET)
Date last edited	N/A

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