Phenotype #0000333431

Individual ID	00444179
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	00y09m?
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	age of onset 08.5m; trigger: none; Clinical findings: acute encephalopathy, dystoia, no seizure, cognitive delay, motor regression, macrocephaly; Imaging: enlarged frontoparietotemporal spaces, bilateral caudate nucleus lesion , leukoencephalopathy, no bilateral temporal arachnoid cysts, subdural fluid accumulation
Protein	-
Biochem	glutaric acid 5,286 mmol/mol creatinine, 3-hydrohyglutaric acid 41.21 mmol/mol creatinine, C5DC 150 µmol/l
Enzyme/Activity	not reported
Owner name	Sabrina Oeser
Database submission license
Created by	Sabrina Oeser
Date created	2023-12-20 14:36:32 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD