Global Variome shared LOVD

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

Phenotype #0000168003 Individual ID 00222822 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 03y Diagnosis/Initial - Age/Examination 09y02m15d (9 years, 2 months, 15 days) Diagnosis/Definite - Age/Diagnosis 00y00m05d Phenotype/Onset Insidious onset Phenotype details Mild movement disorder, dystonia (HP:0001276), spasticity (HP:0001257), ataxia (HP:0001251), minor motor smyptoms Protein - Biochem Low excretor Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-02-12 09:35:14 +01:00 (CET) Date last edited N/A

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