Global Variome shared LOVD

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

Phenotype #0000155592 Individual ID 00207810 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 07m Protein - Biochem GA(urine):normal; 3-OH-GA(urine):lowor intermediate; glutarylcarnitine(NBS):not available Enzyme/Activity 5% Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-11-30 15:06:19 +01:00 (CET) Date last edited 2018-11-30 15:11:32 +01:00 (CET)

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