Global Variome shared LOVD

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

Phenotype #0000334557 Individual ID 00445329 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 00y06m Phenotype/Onset - Phenotype details Clinical findings: macrocephaly, neuropsychomotor developmental delay, seizures, neurological regression; Imaging: white matter and stratium lesions Protein - Biochem Biochemical findings: C5DC 0.83 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 14:43:12 +01:00 (CET) Date last edited N/A

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