Global Variome shared LOVD

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

Phenotype #0000155690 Individual ID 00207910 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y04m Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 00y04m Phenotype/Onset - Phenotype details Symptoms:Seizure; Outcome: Progression on development but very slow (walking at age 5y); Neuroimaging: Bilateral temporal arachnoid cysts Protein - Biochem GA(urine): 1480.5; 3-OH-GA(urine): 12.12 Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-12-03 16:04:40 +01:00 (CET) Date last edited N/A

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