Global Variome shared LOVD

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

Phenotype #0000167978 Individual ID 00222776 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination 00y05m (5 months) Diagnosis/Definite - Age/Diagnosis 00y03m Phenotype/Onset - Phenotype details No movement disorder Protein - Biochem High excretor Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-02-11 15:51:33 +01:00 (CET) Date last edited N/A

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