Global Variome shared LOVD

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

Phenotype #0000174477 Individual ID 00234057 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y10m Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details Hypertonia Protein - Biochem GA(urine): 921.58 times higher than healthy contro Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-05-06 09:28:26 +02:00 (CEST) Date last edited N/A

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