Global Variome shared LOVD

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

Phenotype #0000168005 Individual ID 00222824 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 01y01m Diagnosis/Initial - Age/Examination 03y03m15d (3 years, 3 months, 15 days) Diagnosis/Definite - Age/Diagnosis 01y01m Phenotype/Onset Acute onset: acute encephalopathic crisis (HP:0006846) Phenotype details Severe movement disorder, dystonia (HP:0001276), minor motor symptoms 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 09:41:00 +01:00 (CET) Date last edited N/A

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