Global Variome shared LOVD

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

Phenotype #0000344256 Individual ID 00455723 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 00y08m Phenotype/Onset - Phenotype details Clinical findings: hypotonia in both legs at 08m Protein - Biochem [before/after treatment] C5DC (blood) 1.04 / 0.99 µmol/l, C5DC/C8 (blood ) 6.43 / 11.93, Glutaric acid (urine) 129.26 / 16.84 mmol/mol creatinine Enzyme/Activity - Owner name Sabrina Oeser Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Sabrina Oeser Date created 2024-10-18 09:47:59 +02:00 (CEST) Date last edited N/A

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