Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000334568 Individual ID 00445340 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 02y11m Phenotype/Onset - Phenotype details Clinical findings: neuropsychomotor developmental delay, hypotonia, dysarthria, ataxia, cognitive deficit; Imaging:widening of CSF spaces, white matter hypersigna Protein - Biochem C5DC 0.42 µmol/l, glutaric acid high, 3-hydroxy-glutaric acid high Enzyme/Activity not reported Owner name Sabrina Oeser Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Sabrina Oeser Date created 2024-01-09 16:15:38 +01:00 (CET) Date last edited N/A

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