Phenotype #0000334547

Individual ID	00445319
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	00y06m
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	trigger: infection; Clinical findings: acute encephalopathy, dystonia, seizure, cognitive delay, motor regression, macrocephaly ; Imaging: enlarged frontoparietotemporal spaces , no bilateral caudate nucleus lesion, leukoencephalopathy, no bilateral temporal arachnoid cysts, no subdural fluid accumulation
Protein	-
Biochem	glutaric acid 916 mmol/mol creatinine, 3-hydrohyglutaric acid 114 mmol/mol creatinine, C5DC 4.16 µmol/l
Enzyme/Activity	not reported
Owner name	Sabrina Oeser
Database submission license
Created by	Sabrina Oeser
Date created	2024-01-08 15:16:14 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD