Phenotype #0000333428

Individual ID	00444176
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	01y03m
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	trigger: none; Clinical findings: dystoia, no seizure, no cognitive delay, no 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 7,620 mmol/mol creatinine, 3-hydrohyglutaric acid 631 mmol/mol creatinine, C5DC 1.43 µmol/l
Enzyme/Activity	not reported
Owner name	Sabrina Oeser
Database submission license
Created by	Sabrina Oeser
Date created	2023-12-20 14:16:40 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD