Global Variome shared LOVD

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

Phenotype #0000167977 Individual ID 00222775 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y06m Diagnosis/Initial - Age/Examination 05y01m (5 years, 1 month) Diagnosis/Definite 13d Age/Diagnosis - Phenotype/Onset Insidious onset Phenotype details Moderate movement disorder, dystonia (HP:0001276), minor motor symptoms 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 15:47:50 +01:00 (CET) Date last edited N/A

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