Global Variome shared LOVD

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

Phenotype #0000173788 Individual ID 00231386 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset Acute onset: Acute encephalopathy (HP:0006846) Phenotype details Severely affected (= dystonia (static or progressive), unable to stand up, walk or speak) Protein - Biochem GA(urine): 2 mmol/mol creatinine; 3-OH-GA(urine): 18 mmol/mol creatinine Enzyme/Activity 10% (fibroblasts) Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-04-30 17:38:49 +02:00 (CEST) Date last edited N/A

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