Global Variome shared LOVD

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

Phenotype #0000155521 Individual ID 00207724 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details Acute striatal injury at age 08m Protein - Biochem GA(urine): normal; 3-OH-GA(urine):low; glutarylcarnitine(NBS):0.13µM Enzyme/Activity 10% Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-11-30 13:19:16 +01:00 (CET) Date last edited N/A

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